Aliases for GM2A Gene
External Ids for GM2A Gene
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]
GeneCards Summary for GM2A Gene
GM2A (GM2 Ganglioside Activator) is a Protein Coding gene. Diseases associated with GM2A include gm2-gangliosidosis, ab variant and tay-sachs disease. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include beta-N-acetylhexosaminidase activity and sphingolipid activator protein activity.
UniProtKB/Swiss-Prot for GM2A Gene
The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.