This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Alternative Names
beta-hexosaminidase beta-N-acetylhexosaminidase subunit alpha EC 3.2.1 EC 3.2.1.52 HEXA hexosaminidase A hexosaminidase A (alpha polypeptide) hexosaminidase A (alpha polypeptide) isoform HEXA_1 hexosaminidase A (alpha polypeptide) isoform HEXA_2 hexosaminidase A (alpha polypeptide) isoform HEXA_3 hexosaminidase A (alpha polypeptide) isoform HEXA_4 hexosaminidase A (alpha polypeptide) isoform HEXA_5 hexosaminidase subunit A Hexose aminidase A (alpha polypeptide) MGC99608 N-acetyl-alpha-glucosaminidase prepro-polypeptide N-acetyl-beta-glucosaminidase subunit alpha Unknown