2GK1

X-ray crystal structure of NGT-bound HexA

External Resource: Annotation

Domain Annotation: SCOP/SCOPe Classification
Domain Annotation: SCOP2 Classification
Domain Annotation: ECOD Classification
Domain Annotation: CATH
Protein Family Annotation
Gene Ontology: Gene Product Annotation
InterPro: Protein Family Classification
Pharos: Disease Associations

Domain Annotation: SCOP/SCOPe Classification SCOP-e Database Homepage

Chains	Domain Info	Class	Fold	Superfamily	Family	Domain	Species	Provenance Source (Version)
A	d2gk1.1	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
F [auth C]	d2gk1.2	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
K [auth E]	d2gk1.3	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
P [auth G]	d2gk1.4	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
G [auth J]	d2gk1j1	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
G [auth J]	d2gk1.2	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
Q [auth L]	d2gk1l1	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
Q [auth L]	d2gk1.4	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
B [auth I]	d2gk1i1	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
B [auth I]	d2gk1.1	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
L [auth K]	d2gk1k1	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
L [auth K]	d2gk1.3	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase A	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
M [auth F]	d2gk1.7	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
R [auth H]	d2gk1.8	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
C [auth B]	d2gk1.5	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
H [auth D]	d2gk1.6	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
D [auth M]	d2gk1.9	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
D [auth M]	d2gk1.5	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
I [auth O]	d2gk1.a	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
I [auth O]	d2gk1.6	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
N [auth Q]	d2gk1.b	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
N [auth Q]	d2gk1.7	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
S	d2gk1.c	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
S	d2gk1.8	Alpha and beta proteins (a+b)	Zincin-like	beta-N-acetylhexosaminidase-like domain	beta-N-acetylhexosaminidase domain	beta-hexosaminidase B, N-terminal domain	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
O [auth R]	d2gk1.b	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
E [auth N]	d2gk1.9	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
J [auth P]	d2gk1.a	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
T	d2gk1.c	Alpha and beta proteins (a/b)	TIM beta/alpha-barrel	(Trans)glycosidases	beta-N-acetylhexosaminidase catalytic domain	beta-hexosaminidase B	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)

Domain Annotation: SCOP2 Classification SCOP2 Database Homepage

Chains	Type	Family Name	Domain Identifier	Family Identifier	Provenance Source (Version)
G [auth J]	SCOP2B Superfamily	(Trans)glycosidases	8032900	3000313	SCOP2B (2022-06-29)
Q [auth L]	SCOP2B Superfamily	(Trans)glycosidases	8032900	3000313	SCOP2B (2022-06-29)
B [auth I]	SCOP2B Superfamily	(Trans)glycosidases	8032900	3000313	SCOP2B (2022-06-29)
L [auth K]	SCOP2B Superfamily	(Trans)glycosidases	8032900	3000313	SCOP2B (2022-06-29)

Domain Annotation: ECOD Classification ECOD Database Homepage

Chains	Family Name	Domain Identifier	Architecture	Possible Homology	Homology	Topology	Family	Provenance Source (Version)
A	Glyco_hydro_20	e2gk1A1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
A	Glycohydro_20b2	e2gk1A2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
F [auth C]	Glyco_hydro_20	e2gk1C1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
F [auth C]	Glycohydro_20b2	e2gk1C2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
K [auth E]	Glyco_hydro_20	e2gk1E1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
K [auth E]	Glycohydro_20b2	e2gk1E2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
P [auth G]	Glyco_hydro_20	e2gk1G1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
P [auth G]	Glycohydro_20b2	e2gk1G2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
M [auth F]	Glyco_hydro_20	e2gk1F1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
M [auth F]	Glycohydro_20b2	e2gk1F2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
R [auth H]	Glyco_hydro_20	e2gk1H1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
R [auth H]	Glycohydro_20b2	e2gk1H2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
C [auth B]	Glyco_hydro_20	e2gk1B1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
C [auth B]	Glycohydro_20b2	e2gk1B2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)
H [auth D]	Glyco_hydro_20	e2gk1D1	A: a/b barrels	X: TIM beta/alpha-barrel	H: TIM barrels (From Topology)	T: TIM barrels	F: Glyco_hydro_20	ECOD (1.6)
H [auth D]	Glycohydro_20b2	e2gk1D2	A: mixed a+b and a/b	X: Zincin-like	H: beta-N-acetylhexosaminidase-like domain (From Topology)	T: beta-N-acetylhexosaminidase-like domain	F: Glycohydro_20b2	ECOD (1.6)

Domain Annotation: CATH CATH Database Homepage

Chain	Domain	Class	Architecture	Topology	Homology	Provenance Source (Version)
G [auth J]	3.20.20.80	Alpha Beta	Alpha-Beta Barrel	TIM Barrel	Glycosidases	CATH (4.3.0)
Q [auth L]	3.20.20.80	Alpha Beta	Alpha-Beta Barrel	TIM Barrel	Glycosidases	CATH (4.3.0)
B [auth I]	3.20.20.80	Alpha Beta	Alpha-Beta Barrel	TIM Barrel	Glycosidases	CATH (4.3.0)
L [auth K]	3.20.20.80	Alpha Beta	Alpha-Beta Barrel	TIM Barrel	Glycosidases	CATH (4.3.0)

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A, F [auth C], K [auth E], P [auth G]	PF14845	beta-acetyl hexosaminidase like (Glycohydro_20b2)	beta-acetyl hexosaminidase like	-	Domain
B [auth I], G [auth J], L [auth K], Q [auth L]	PF14845	beta-acetyl hexosaminidase like (Glycohydro_20b2)	beta-acetyl hexosaminidase like	-	Domain
B [auth I], G [auth J], L [auth K], Q [auth L]	PF00728	Glycosyl hydrolase family 20, catalytic domain (Glyco_hydro_20)	Glycosyl hydrolase family 20, catalytic domain	This domain has a TIM barrel fold.	Domain
C [auth B], H [auth D], M [auth F], R [auth H]	PF14845	beta-acetyl hexosaminidase like (Glycohydro_20b2)	beta-acetyl hexosaminidase like	-	Domain
D [auth M], I [auth O], N [auth Q], S	PF14845	beta-acetyl hexosaminidase like (Glycohydro_20b2)	beta-acetyl hexosaminidase like	-	Domain
D [auth M], I [auth O], N [auth Q], S	PF00728	Glycosyl hydrolase family 20, catalytic domain (Glyco_hydro_20)	Glycosyl hydrolase family 20, catalytic domain	This domain has a TIM barrel fold.	Domain

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A, F [auth C], K [auth E], P [auth G]	Beta-hexosaminidase subunit alpha	protein heterodimerization activity protein binding binding protein dimerization activity UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds protein heterodimerization activity protein binding binding protein dimerization activity UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds hydrolase activity	carbohydrate derivative biosynthetic process glycosaminoglycan metabolic process carbohydrate derivative metabolic process macromolecule biosynthetic process biosynthetic process aminoglycan metabolic process aminoglycan biosynthetic process glycosaminoglycan biosynthetic process metabolic process cellular process macromolecule metabolic process carbohydrate metabolic process primary metabolic process developmental process carbohydrate derivative biosynthetic process glycosaminoglycan metabolic process carbohydrate derivative metabolic process macromolecule biosynthetic process biosynthetic process aminoglycan metabolic process aminoglycan biosynthetic process glycosaminoglycan biosynthetic process metabolic process cellular process macromolecule metabolic process carbohydrate metabolic process primary metabolic process developmental process multicellular organism development multicellular organismal process skeletal system development anatomical structure development system development sexual reproduction reproductive process membrane lipid metabolic process sphingolipid catabolic process ceramide metabolic process ganglioside catabolic process carbohydrate derivative catabolic process glycosphingolipid catabolic process catabolic process lipid catabolic process glycolipid metabolic process glycosphingolipid metabolic process liposaccharide metabolic process sphingolipid metabolic process membrane lipid catabolic process glycolipid catabolic process ceramide catabolic process amide metabolic process ganglioside metabolic process lipid metabolic process system process nervous system process neuromuscular process neuromuscular process controlling balance cellular component organization lysosome organization organelle organization vacuole organization lytic vacuole organization cellular component organization or biogenesis cellular developmental process cell development nervous system development cell morphogenesis involved in neuron differentiation cell morphogenesis generation of neurons anatomical structure morphogenesis neurogenesis neuron differentiation cell differentiation neuron development mucopolysaccharide metabolic process dermatan sulfate proteoglycan metabolic process oxoacid metabolic process organic acid metabolic process organic acid catabolic process macromolecule catabolic process cellular catabolic process monocarboxylic acid catabolic process carboxylic acid catabolic process sulfur compound metabolic process small molecule metabolic process protein metabolic process carboxylic acid metabolic process aminoglycan catabolic process glycoprotein metabolic process dermatan sulfate catabolic process sulfur compound catabolic process glycosaminoglycan catabolic process dermatan sulfate metabolic process monocarboxylic acid metabolic process proteoglycan metabolic process small molecule catabolic process sensory perception sensory perception of sound sensory perception of mechanical stimulus localization macromolecule localization lipid storage lipid localization maintenance of location neuromuscular process controlling posture adult walking behavior adult locomotory behavior behavior adult behavior locomotory behavior walking behavior cellular localization maintenance of location in cell myelination axon ensheathment ensheathment of neurons hyaluronan catabolic process hyaluronan metabolic process	cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cytoplasm lysosome extracellular exosome extracellular vesicle extracellular organelle extracellular region extracellular space vesicle extracellular membrane-bounded organelle cytosol beta-N-acetylhexosaminidase complex protein-containing complex catalytic complex intracellular vesicle azurophil granule endomembrane system cytoplasmic vesicle secretory granule primary lysosome secretory vesicle
B [auth I], G [auth J], L [auth K], Q [auth L]	Beta-hexosaminidase subunit alpha	protein heterodimerization activity protein binding binding protein dimerization activity UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds protein heterodimerization activity protein binding binding protein dimerization activity UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds hydrolase activity	carbohydrate derivative biosynthetic process glycosaminoglycan metabolic process carbohydrate derivative metabolic process macromolecule biosynthetic process biosynthetic process aminoglycan metabolic process aminoglycan biosynthetic process glycosaminoglycan biosynthetic process metabolic process cellular process macromolecule metabolic process carbohydrate metabolic process primary metabolic process developmental process carbohydrate derivative biosynthetic process glycosaminoglycan metabolic process carbohydrate derivative metabolic process macromolecule biosynthetic process biosynthetic process aminoglycan metabolic process aminoglycan biosynthetic process glycosaminoglycan biosynthetic process metabolic process cellular process macromolecule metabolic process carbohydrate metabolic process primary metabolic process developmental process multicellular organism development multicellular organismal process skeletal system development anatomical structure development system development sexual reproduction reproductive process membrane lipid metabolic process sphingolipid catabolic process ceramide metabolic process ganglioside catabolic process carbohydrate derivative catabolic process glycosphingolipid catabolic process catabolic process lipid catabolic process glycolipid metabolic process glycosphingolipid metabolic process liposaccharide metabolic process sphingolipid metabolic process membrane lipid catabolic process glycolipid catabolic process ceramide catabolic process amide metabolic process ganglioside metabolic process lipid metabolic process system process nervous system process neuromuscular process neuromuscular process controlling balance cellular component organization lysosome organization organelle organization vacuole organization lytic vacuole organization cellular component organization or biogenesis cellular developmental process cell development nervous system development cell morphogenesis involved in neuron differentiation cell morphogenesis generation of neurons anatomical structure morphogenesis neurogenesis neuron differentiation cell differentiation neuron development mucopolysaccharide metabolic process dermatan sulfate proteoglycan metabolic process oxoacid metabolic process organic acid metabolic process organic acid catabolic process macromolecule catabolic process cellular catabolic process monocarboxylic acid catabolic process carboxylic acid catabolic process sulfur compound metabolic process small molecule metabolic process protein metabolic process carboxylic acid metabolic process aminoglycan catabolic process glycoprotein metabolic process dermatan sulfate catabolic process sulfur compound catabolic process glycosaminoglycan catabolic process dermatan sulfate metabolic process monocarboxylic acid metabolic process proteoglycan metabolic process small molecule catabolic process sensory perception sensory perception of sound sensory perception of mechanical stimulus localization macromolecule localization lipid storage lipid localization maintenance of location neuromuscular process controlling posture adult walking behavior adult locomotory behavior behavior adult behavior locomotory behavior walking behavior cellular localization maintenance of location in cell myelination axon ensheathment ensheathment of neurons hyaluronan catabolic process hyaluronan metabolic process	cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cytoplasm lysosome extracellular exosome extracellular vesicle extracellular organelle extracellular region extracellular space vesicle extracellular membrane-bounded organelle cytosol beta-N-acetylhexosaminidase complex protein-containing complex catalytic complex intracellular vesicle azurophil granule endomembrane system cytoplasmic vesicle secretory granule primary lysosome secretory vesicle
C [auth B], H [auth D], M [auth F], R [auth H]	Beta-hexosaminidase subunit beta	UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds hydrolase activity identical protein binding protein binding binding	behavior multicellular organismal process locomotory behavior developmental process sexual reproduction cellular developmental process reproductive process oogenesis multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism female gamete generation developmental process involved in reproduction gamete generation behavior multicellular organismal process locomotory behavior developmental process sexual reproduction cellular developmental process reproductive process oogenesis multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism female gamete generation developmental process involved in reproduction gamete generation cell differentiation anatomical structure development germ cell development cellular process glial cell migration nervous system development neurogenesis multicellular organism development gliogenesis astrocyte cell migration cell migration cell motility system development skeletal system development membrane lipid metabolic process sphingolipid catabolic process ceramide metabolic process ganglioside catabolic process carbohydrate derivative catabolic process glycosphingolipid catabolic process catabolic process lipid catabolic process glycolipid metabolic process glycosphingolipid metabolic process liposaccharide metabolic process carbohydrate derivative metabolic process primary metabolic process sphingolipid metabolic process membrane lipid catabolic process glycolipid catabolic process ceramide catabolic process metabolic process amide metabolic process ganglioside metabolic process lipid metabolic process fertilization single fertilization inorganic ion homeostasis intracellular calcium ion homeostasis homeostatic process calcium ion homeostasis cellular homeostasis chemical homeostasis intracellular monoatomic cation homeostasis monoatomic ion homeostasis intracellular chemical homeostasis monoatomic cation homeostasis intracellular monoatomic ion homeostasis system process nervous system process neuromuscular process neuromuscular process controlling balance lipid biosynthetic process phospholipid biosynthetic process phospholipid metabolic process biosynthetic process organophosphate metabolic process organophosphate biosynthetic process phosphate-containing compound metabolic process phosphorus metabolic process cellular component organization lysosome organization organelle organization vacuole organization lytic vacuole organization cellular component organization or biogenesis mucopolysaccharide metabolic process glycosaminoglycan metabolic process chondroitin sulfate proteoglycan metabolic process aminoglycan catabolic process glycoprotein metabolic process macromolecule catabolic process cellular catabolic process sulfur compound catabolic process glycosaminoglycan catabolic process chondroitin sulfate catabolic process aminoglycan metabolic process sulfur compound metabolic process macromolecule metabolic process protein metabolic process proteoglycan metabolic process chondroitin sulfate metabolic process multi-multicellular organism process penetration of zona pellucida regulation of biological process regulation of developmental process biological regulation regulation of cell shape cell morphogenesis regulation of cell morphogenesis anatomical structure morphogenesis regulation of biological quality regulation of anatomical structure morphogenesis dermatan sulfate proteoglycan metabolic process oxoacid metabolic process organic acid metabolic process organic acid catabolic process monocarboxylic acid catabolic process carboxylic acid catabolic process small molecule metabolic process carboxylic acid metabolic process dermatan sulfate catabolic process dermatan sulfate metabolic process monocarboxylic acid metabolic process small molecule catabolic process sensory perception sensory perception of sound sensory perception of mechanical stimulus carbohydrate metabolic process oligosaccharide catabolic process oligosaccharide metabolic process carbohydrate catabolic process localization macromolecule localization lipid storage lipid localization maintenance of location cellular localization maintenance of location in cell myelination axon ensheathment ensheathment of neurons male mating behavior male courtship behavior reproductive behavior courtship behavior mating behavior regulation of cellular process positive regulation of DNA-templated transcription positive regulation of biological process RNA metabolic process positive regulation of macromolecule biosynthetic process regulation of primary metabolic process nucleobase-containing compound metabolic process RNA biosynthetic process nucleic acid biosynthetic process positive regulation of metabolic process DNA-templated transcription regulation of RNA metabolic process transcription by RNA polymerase II positive regulation of biosynthetic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process positive regulation of cellular process regulation of RNA biosynthetic process regulation of biosynthetic process regulation of transcription by RNA polymerase II positive regulation of nucleobase-containing compound metabolic process regulation of macromolecule metabolic process positive regulation of transcription by RNA polymerase II nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process positive regulation of RNA metabolic process regulation of gene expression positive regulation of RNA biosynthetic process regulation of macromolecule biosynthetic process regulation of DNA-templated transcription regulation of metabolic process hyaluronan catabolic process hyaluronan metabolic process neuron cellular homeostasis	cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cytoplasm lysosome extracellular exosome extracellular vesicle extracellular organelle extracellular region extracellular space vesicle extracellular membrane-bounded organelle intracellular vesicle endomembrane system cytoplasmic vesicle secretory granule secretory vesicle cortical granule cytoplasmic vesicle lumen vesicle lumen azurophil granule secretory granule lumen azurophil granule lumen primary lysosome beta-N-acetylhexosaminidase complex protein-containing complex catalytic complex acrosomal vesicle
D [auth M], I [auth O], N [auth Q], S	Beta-hexosaminidase subunit beta chain B	UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds hydrolase activity identical protein binding protein binding binding	behavior multicellular organismal process locomotory behavior developmental process sexual reproduction cellular developmental process reproductive process oogenesis multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism female gamete generation developmental process involved in reproduction gamete generation behavior multicellular organismal process locomotory behavior developmental process sexual reproduction cellular developmental process reproductive process oogenesis multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism female gamete generation developmental process involved in reproduction gamete generation cell differentiation anatomical structure development germ cell development cellular process glial cell migration nervous system development neurogenesis multicellular organism development gliogenesis astrocyte cell migration cell migration cell motility system development skeletal system development membrane lipid metabolic process sphingolipid catabolic process ceramide metabolic process ganglioside catabolic process carbohydrate derivative catabolic process glycosphingolipid catabolic process catabolic process lipid catabolic process glycolipid metabolic process glycosphingolipid metabolic process liposaccharide metabolic process carbohydrate derivative metabolic process primary metabolic process sphingolipid metabolic process membrane lipid catabolic process glycolipid catabolic process ceramide catabolic process metabolic process amide metabolic process ganglioside metabolic process lipid metabolic process fertilization single fertilization inorganic ion homeostasis intracellular calcium ion homeostasis homeostatic process calcium ion homeostasis cellular homeostasis chemical homeostasis intracellular monoatomic cation homeostasis monoatomic ion homeostasis intracellular chemical homeostasis monoatomic cation homeostasis intracellular monoatomic ion homeostasis system process nervous system process neuromuscular process neuromuscular process controlling balance lipid biosynthetic process phospholipid biosynthetic process phospholipid metabolic process biosynthetic process organophosphate metabolic process organophosphate biosynthetic process phosphate-containing compound metabolic process phosphorus metabolic process cellular component organization lysosome organization organelle organization vacuole organization lytic vacuole organization cellular component organization or biogenesis mucopolysaccharide metabolic process glycosaminoglycan metabolic process chondroitin sulfate proteoglycan metabolic process aminoglycan catabolic process glycoprotein metabolic process macromolecule catabolic process cellular catabolic process sulfur compound catabolic process glycosaminoglycan catabolic process chondroitin sulfate catabolic process aminoglycan metabolic process sulfur compound metabolic process macromolecule metabolic process protein metabolic process proteoglycan metabolic process chondroitin sulfate metabolic process multi-multicellular organism process penetration of zona pellucida regulation of biological process regulation of developmental process biological regulation regulation of cell shape cell morphogenesis regulation of cell morphogenesis anatomical structure morphogenesis regulation of biological quality regulation of anatomical structure morphogenesis dermatan sulfate proteoglycan metabolic process oxoacid metabolic process organic acid metabolic process organic acid catabolic process monocarboxylic acid catabolic process carboxylic acid catabolic process small molecule metabolic process carboxylic acid metabolic process dermatan sulfate catabolic process dermatan sulfate metabolic process monocarboxylic acid metabolic process small molecule catabolic process sensory perception sensory perception of sound sensory perception of mechanical stimulus carbohydrate metabolic process oligosaccharide catabolic process oligosaccharide metabolic process carbohydrate catabolic process localization macromolecule localization lipid storage lipid localization maintenance of location cellular localization maintenance of location in cell myelination axon ensheathment ensheathment of neurons male mating behavior male courtship behavior reproductive behavior courtship behavior mating behavior regulation of cellular process positive regulation of DNA-templated transcription positive regulation of biological process RNA metabolic process positive regulation of macromolecule biosynthetic process regulation of primary metabolic process nucleobase-containing compound metabolic process RNA biosynthetic process nucleic acid biosynthetic process positive regulation of metabolic process DNA-templated transcription regulation of RNA metabolic process transcription by RNA polymerase II positive regulation of biosynthetic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process positive regulation of cellular process regulation of RNA biosynthetic process regulation of biosynthetic process regulation of transcription by RNA polymerase II positive regulation of nucleobase-containing compound metabolic process regulation of macromolecule metabolic process positive regulation of transcription by RNA polymerase II nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process positive regulation of RNA metabolic process regulation of gene expression positive regulation of RNA biosynthetic process regulation of macromolecule biosynthetic process regulation of DNA-templated transcription regulation of metabolic process hyaluronan catabolic process hyaluronan metabolic process neuron cellular homeostasis	cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cytoplasm lysosome extracellular exosome extracellular vesicle extracellular organelle extracellular region extracellular space vesicle extracellular membrane-bounded organelle intracellular vesicle endomembrane system cytoplasmic vesicle secretory granule secretory vesicle cortical granule cytoplasmic vesicle lumen vesicle lumen azurophil granule secretory granule lumen azurophil granule lumen primary lysosome beta-N-acetylhexosaminidase complex protein-containing complex catalytic complex acrosomal vesicle
E [auth N], J [auth P], O [auth R], T	Beta-hexosaminidase subunit beta chain A	UDP-glycosyltransferase activity glycosyltransferase activity acetylglucosaminyltransferase activity transferase activity hexosyltransferase activity catalytic activity hydrolase activity, acting on glycosyl bonds hexosaminidase activity beta-N-acetylhexosaminidase activity hydrolase activity, hydrolyzing O-glycosyl compounds hydrolase activity identical protein binding protein binding binding	behavior multicellular organismal process locomotory behavior developmental process sexual reproduction cellular developmental process reproductive process oogenesis multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism female gamete generation developmental process involved in reproduction gamete generation behavior multicellular organismal process locomotory behavior developmental process sexual reproduction cellular developmental process reproductive process oogenesis multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism female gamete generation developmental process involved in reproduction gamete generation cell differentiation anatomical structure development germ cell development cellular process glial cell migration nervous system development neurogenesis multicellular organism development gliogenesis astrocyte cell migration cell migration cell motility system development skeletal system development membrane lipid metabolic process sphingolipid catabolic process ceramide metabolic process ganglioside catabolic process carbohydrate derivative catabolic process glycosphingolipid catabolic process catabolic process lipid catabolic process glycolipid metabolic process glycosphingolipid metabolic process liposaccharide metabolic process carbohydrate derivative metabolic process primary metabolic process sphingolipid metabolic process membrane lipid catabolic process glycolipid catabolic process ceramide catabolic process metabolic process amide metabolic process ganglioside metabolic process lipid metabolic process fertilization single fertilization inorganic ion homeostasis intracellular calcium ion homeostasis homeostatic process calcium ion homeostasis cellular homeostasis chemical homeostasis intracellular monoatomic cation homeostasis monoatomic ion homeostasis intracellular chemical homeostasis monoatomic cation homeostasis intracellular monoatomic ion homeostasis system process nervous system process neuromuscular process neuromuscular process controlling balance lipid biosynthetic process phospholipid biosynthetic process phospholipid metabolic process biosynthetic process organophosphate metabolic process organophosphate biosynthetic process phosphate-containing compound metabolic process phosphorus metabolic process cellular component organization lysosome organization organelle organization vacuole organization lytic vacuole organization cellular component organization or biogenesis mucopolysaccharide metabolic process glycosaminoglycan metabolic process chondroitin sulfate proteoglycan metabolic process aminoglycan catabolic process glycoprotein metabolic process macromolecule catabolic process cellular catabolic process sulfur compound catabolic process glycosaminoglycan catabolic process chondroitin sulfate catabolic process aminoglycan metabolic process sulfur compound metabolic process macromolecule metabolic process protein metabolic process proteoglycan metabolic process chondroitin sulfate metabolic process multi-multicellular organism process penetration of zona pellucida regulation of biological process regulation of developmental process biological regulation regulation of cell shape cell morphogenesis regulation of cell morphogenesis anatomical structure morphogenesis regulation of biological quality regulation of anatomical structure morphogenesis dermatan sulfate proteoglycan metabolic process oxoacid metabolic process organic acid metabolic process organic acid catabolic process monocarboxylic acid catabolic process carboxylic acid catabolic process small molecule metabolic process carboxylic acid metabolic process dermatan sulfate catabolic process dermatan sulfate metabolic process monocarboxylic acid metabolic process small molecule catabolic process sensory perception sensory perception of sound sensory perception of mechanical stimulus carbohydrate metabolic process oligosaccharide catabolic process oligosaccharide metabolic process carbohydrate catabolic process localization macromolecule localization lipid storage lipid localization maintenance of location cellular localization maintenance of location in cell myelination axon ensheathment ensheathment of neurons male mating behavior male courtship behavior reproductive behavior courtship behavior mating behavior regulation of cellular process positive regulation of DNA-templated transcription positive regulation of biological process RNA metabolic process positive regulation of macromolecule biosynthetic process regulation of primary metabolic process nucleobase-containing compound metabolic process RNA biosynthetic process nucleic acid biosynthetic process positive regulation of metabolic process DNA-templated transcription regulation of RNA metabolic process transcription by RNA polymerase II positive regulation of biosynthetic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process positive regulation of cellular process regulation of RNA biosynthetic process regulation of biosynthetic process regulation of transcription by RNA polymerase II positive regulation of nucleobase-containing compound metabolic process regulation of macromolecule metabolic process positive regulation of transcription by RNA polymerase II nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process positive regulation of RNA metabolic process regulation of gene expression positive regulation of RNA biosynthetic process regulation of macromolecule biosynthetic process regulation of DNA-templated transcription regulation of metabolic process hyaluronan catabolic process hyaluronan metabolic process neuron cellular homeostasis	cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cellular anatomical structure membrane membrane-bounded organelle intracellular anatomical structure lytic vacuole membrane-enclosed lumen vacuolar lumen vacuole intracellular membrane-bounded organelle lysosomal lumen intracellular organelle lumen intracellular organelle organelle lumen organelle cytoplasm lysosome extracellular exosome extracellular vesicle extracellular organelle extracellular region extracellular space vesicle extracellular membrane-bounded organelle intracellular vesicle endomembrane system cytoplasmic vesicle secretory granule secretory vesicle cortical granule cytoplasmic vesicle lumen vesicle lumen azurophil granule secretory granule lumen azurophil granule lumen primary lysosome beta-N-acetylhexosaminidase complex protein-containing complex catalytic complex acrosomal vesicle

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A, F [auth C], K [auth E], P [auth G]	IPR029019	Beta-hexosaminidase, eukaryotic type, N-terminal	Domain
A, F [auth C], K [auth E], P [auth G]	IPR015883	Glycoside hydrolase family 20, catalytic domain	Domain
A, F [auth C], K [auth E], P [auth G]	IPR017853	Glycoside hydrolase superfamily	Homologous Superfamily
A, F [auth C], K [auth E], P [auth G]	IPR029018	Beta-hexosaminidase-like, domain 2	Homologous Superfamily
A, F [auth C], K [auth E], P [auth G]	IPR025705	Beta-hexosaminidase	Family
B [auth I], G [auth J], L [auth K], Q [auth L]	IPR029019	Beta-hexosaminidase, eukaryotic type, N-terminal	Domain
B [auth I], G [auth J], L [auth K], Q [auth L]	IPR015883	Glycoside hydrolase family 20, catalytic domain	Domain
B [auth I], G [auth J], L [auth K], Q [auth L]	IPR017853	Glycoside hydrolase superfamily	Homologous Superfamily
B [auth I], G [auth J], L [auth K], Q [auth L]	IPR029018	Beta-hexosaminidase-like, domain 2	Homologous Superfamily
B [auth I], G [auth J], L [auth K], Q [auth L]	IPR025705	Beta-hexosaminidase	Family
C [auth B], H [auth D], M [auth F], R [auth H]	IPR029019	Beta-hexosaminidase, eukaryotic type, N-terminal	Domain
C [auth B], H [auth D], M [auth F], R [auth H]	IPR015883	Glycoside hydrolase family 20, catalytic domain	Domain
C [auth B], H [auth D], M [auth F], R [auth H]	IPR017853	Glycoside hydrolase superfamily	Homologous Superfamily
C [auth B], H [auth D], M [auth F], R [auth H]	IPR029018	Beta-hexosaminidase-like, domain 2	Homologous Superfamily
C [auth B], H [auth D], M [auth F], R [auth H]	IPR025705	Beta-hexosaminidase	Family
D [auth M], I [auth O], N [auth Q], S	IPR029019	Beta-hexosaminidase, eukaryotic type, N-terminal	Domain
D [auth M], I [auth O], N [auth Q], S	IPR015883	Glycoside hydrolase family 20, catalytic domain	Domain
D [auth M], I [auth O], N [auth Q], S	IPR017853	Glycoside hydrolase superfamily	Homologous Superfamily
D [auth M], I [auth O], N [auth Q], S	IPR029018	Beta-hexosaminidase-like, domain 2	Homologous Superfamily
D [auth M], I [auth O], N [auth Q], S	IPR025705	Beta-hexosaminidase	Family
E [auth N], J [auth P], O [auth R], T	IPR029019	Beta-hexosaminidase, eukaryotic type, N-terminal	Domain
E [auth N], J [auth P], O [auth R], T	IPR015883	Glycoside hydrolase family 20, catalytic domain	Domain
E [auth N], J [auth P], O [auth R], T	IPR017853	Glycoside hydrolase superfamily	Homologous Superfamily
E [auth N], J [auth P], O [auth R], T	IPR029018	Beta-hexosaminidase-like, domain 2	Homologous Superfamily
E [auth N], J [auth P], O [auth R], T	IPR025705	Beta-hexosaminidase	Family

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A, F [auth C], K [auth E], P [auth G]	Pharos: P06865	Tay-Sachs disease intellectual disability gangliosidosis Riley-Day syndrome Tay-Sachs Disease, Pseudo-AB Variant diabetes mellitus glioblastoma ovarian cancer sphingolipidosis Tay-Sachs disease, b variant, adult form astrocytic tumor GM2 gangliosidosis leukodystrophy subependymal giant cell astrocytoma tuberculosis Tay-Sachs disease intellectual disability gangliosidosis Riley-Day syndrome Tay-Sachs Disease, Pseudo-AB Variant diabetes mellitus glioblastoma ovarian cancer sphingolipidosis Tay-Sachs disease, b variant, adult form astrocytic tumor GM2 gangliosidosis leukodystrophy subependymal giant cell astrocytoma tuberculosis inborn errors of metabolism lysosomal storage disease neurodegenerative disease
B [auth I], G [auth J], L [auth K], Q [auth L]	Pharos: P06865	Tay-Sachs disease intellectual disability gangliosidosis Riley-Day syndrome Tay-Sachs Disease, Pseudo-AB Variant diabetes mellitus glioblastoma ovarian cancer sphingolipidosis Tay-Sachs disease, b variant, adult form astrocytic tumor GM2 gangliosidosis leukodystrophy subependymal giant cell astrocytoma tuberculosis Tay-Sachs disease intellectual disability gangliosidosis Riley-Day syndrome Tay-Sachs Disease, Pseudo-AB Variant diabetes mellitus glioblastoma ovarian cancer sphingolipidosis Tay-Sachs disease, b variant, adult form astrocytic tumor GM2 gangliosidosis leukodystrophy subependymal giant cell astrocytoma tuberculosis inborn errors of metabolism lysosomal storage disease neurodegenerative disease
C [auth B], H [auth D], M [auth F], R [auth H]	Pharos: P07686	Sandhoff disease gangliosidosis GM2 gangliosidosis Juvenile Sandhoff Disease lung cancer neurodegenerative disease acute kidney failure acute myeloid leukemia breast cancer Duchenne muscular dystrophy IgA glomerulonephritis intellectual disability lymphoplasmacytic lymphoma ovarian cancer sphingolipidosis Sandhoff disease gangliosidosis GM2 gangliosidosis Juvenile Sandhoff Disease lung cancer neurodegenerative disease acute kidney failure acute myeloid leukemia breast cancer Duchenne muscular dystrophy IgA glomerulonephritis intellectual disability lymphoplasmacytic lymphoma ovarian cancer sphingolipidosis dermatomyositis glioblastoma inborn errors of metabolism juvenile dermatomyositis large cell medulloblastoma lysosomal storage disease plasma cell myeloma diabetes mellitus esophageal adenocarcinoma
D [auth M], I [auth O], N [auth Q], S	Pharos: P07686	Sandhoff disease gangliosidosis GM2 gangliosidosis Juvenile Sandhoff Disease lung cancer neurodegenerative disease acute kidney failure acute myeloid leukemia breast cancer Duchenne muscular dystrophy IgA glomerulonephritis intellectual disability lymphoplasmacytic lymphoma ovarian cancer sphingolipidosis Sandhoff disease gangliosidosis GM2 gangliosidosis Juvenile Sandhoff Disease lung cancer neurodegenerative disease acute kidney failure acute myeloid leukemia breast cancer Duchenne muscular dystrophy IgA glomerulonephritis intellectual disability lymphoplasmacytic lymphoma ovarian cancer sphingolipidosis dermatomyositis glioblastoma inborn errors of metabolism juvenile dermatomyositis large cell medulloblastoma lysosomal storage disease plasma cell myeloma diabetes mellitus esophageal adenocarcinoma
E [auth N], J [auth P], O [auth R], T	Pharos: P07686	Sandhoff disease gangliosidosis GM2 gangliosidosis Juvenile Sandhoff Disease lung cancer neurodegenerative disease acute kidney failure acute myeloid leukemia breast cancer Duchenne muscular dystrophy IgA glomerulonephritis intellectual disability lymphoplasmacytic lymphoma ovarian cancer sphingolipidosis Sandhoff disease gangliosidosis GM2 gangliosidosis Juvenile Sandhoff Disease lung cancer neurodegenerative disease acute kidney failure acute myeloid leukemia breast cancer Duchenne muscular dystrophy IgA glomerulonephritis intellectual disability lymphoplasmacytic lymphoma ovarian cancer sphingolipidosis dermatomyositis glioblastoma inborn errors of metabolism juvenile dermatomyositis large cell medulloblastoma lysosomal storage disease plasma cell myeloma diabetes mellitus esophageal adenocarcinoma