Gene Symbol | GM2A |
Entrez Gene ID | 2760 |
Full Name | GM2 ganglioside activator |
Synonyms | GM2-AP,SAP-3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Nov 2009]. |
Disorder MIM: | |
Disorder Html: | GM2-gangliosidosis, AB variant, 272750 (3) |