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MGP001431

UniProt Annotations

Entry Information
Gene Namehexosaminidase A (alpha polypeptide)
Protein EntryHEXA_HUMAN
UniProt IDP06865
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P06865-1; Sequence=Displayed; Name=2; IsoId=P06865-2; Sequence=VSP_056657, VSP_056658, VSP_056659; Note=No experimental confirmation available.;
Catalytic ActivityHydrolysis of terminal non-reducing N-acetyl- D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
DiseaseGM2-gangliosidosis 1 (GM2G1) [MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). {ECO:0000269|PubMed:1301189, ECO:0000269|PubMed:1301190, ECO:0000269|PubMed:1302612, ECO:0000269|PubMed:14566483, ECO:0000269|PubMed:1532289, ECO:0000269|PubMed:1837283, ECO:0000269|PubMed:2144098, ECO:0000269|PubMed:2522679, ECO:0000269|PubMed:2970528, ECO:0000269|PubMed:7717398, ECO:0000269|PubMed:7837766, ECO:0000269|PubMed:7898712, ECO:0000269|PubMed:7951261, ECO:0000269|PubMed:8445615, ECO:0000269|PubMed:8490625, ECO:0000269|PubMed:8581357, ECO:0000269|PubMed:8757036, ECO:0000269|PubMed:9150157, ECO:0000269|PubMed:9338583, ECO:0000269|PubMed:9375850, ECO:0000269|PubMed:9401008, ECO:0000269|PubMed:9603435}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionResponsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.
InteractionP00519:ABL1; NbExp=1; IntAct=EBI-723519, EBI-375543; P46108:CRK; NbExp=1; IntAct=EBI-723519, EBI-886; P06241:FYN; NbExp=1; IntAct=EBI-723519, EBI-515315;
PtmN-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2). {ECO:0000269|PubMed:1533633, ECO:0000269|PubMed:16698036, ECO:0000269|PubMed:19159218}.
SimilarityBelongs to the glycosyl hydrolase 20 family. {ECO:0000305}.
Subcellular LocationLysosome.
SubunitThere are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit. {ECO:0000269|PubMed:16698036}.
Web ResourceName=HEXAdb; Note=HEXA mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=HEXAdb";
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