ID:HEXA_HUMAN DESCRIPTION: RecName: Full=Beta-hexosaminidase subunit alpha; EC=3.2.1.52; AltName: Full=Beta-N-acetylhexosaminidase subunit alpha; Short=Hexosaminidase subunit A; AltName: Full=N-acetyl-beta-glucosaminidase subunit alpha; Flags: Precursor; FUNCTION: Responsible 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. CATALYTIC ACTIVITY: Hydrolysis of terminal non-reducing N-acetyl- D-hexosamine residues in N-acetyl-beta-D-hexosaminides. SUBUNIT: There 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. INTERACTION: P00519: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; SUBCELLULAR LOCATION: Lysosome. PTM: N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2). DISEASE: Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]; also known as Tay-Sachs disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset). SIMILARITY: Belongs to the glycosyl hydrolase 20 family. WEB RESOURCE: Name=HEXAdb; Note=HEXA mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=HEXAdb"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HEXA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P06865
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006024 glycosaminoglycan biosynthetic process GO:0006687 glycosphingolipid metabolic process GO:0008152 metabolic process GO:0030207 chondroitin sulfate catabolic process GO:0030214 hyaluronan catabolic process GO:0042340 keratan sulfate catabolic process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
