Entrez gene ID | | 2760 |
Official gene symbol | | GM2A |
Full name | | GM2 ganglioside activator |
Aliases | | ,SAP-3, |
Gene summary | | This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q31.3-q33.1 |
Gene position | | 150632613 - 150649955 Map Viewer |
Gene orientation | | plus |
Gene size | | 17343 bp |
Gene sequence |
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OMIM ID | | 613109 |
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