| Protein Name | hexosaminidase subunit alpha |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 3073 |
| Gene Symbol | HEXA |
| UniProt | P06865 (HEXA_HUMAN), H3BP20 (H3BP20_HUMAN), A0A0S2Z3W3 (A0A0S2Z3W3_HUMAN), B4DVA7 (B4DVA7_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
545
Total Number of Articles : 451 |
Description |
hexosaminidase subunit alpha |
| Gene Summary |
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] |
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