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HEXA 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. Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1); 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). Belongs to the glycosyl hydrolase 20 family. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC; Glycan Metabolism - glycosaminoglycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - other glycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 15q23
Cellular Component: azurophil granule; lysosomal lumen; membrane
Molecular Function: acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; protein heterodimerization activity
Biological Process: chondroitin sulfate catabolic process; glycosaminoglycan biosynthetic process; glycosphingolipid metabolic process; hyaluronan catabolic process; keratan sulfate catabolic process
Disease: Tay-sachs Disease
Reference #:  P06865 (UniProtKB)
Alt. Names/Synonyms: Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; HEXA; hexosaminidase A (alpha polypeptide); Hexosaminidase subunit A; MGC99608; N-acetyl-beta-glucosaminidase subunit alpha; TSD
Gene Symbols: HEXA
Molecular weight: 60,703 Da
Basal Isoelectric point: 5.04  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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