| Protein Name | ganglioside GM2 activator |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2760 |
| Gene Symbol | GM2A |
| UniProt | P17900 (SAP3_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
52
Total Number of Articles : 39 |
Description |
ganglioside GM2 activator |
| 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, Nov 2009] |
| synonyms |
|
| Properties | |