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Gene information for GM2A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2760
Official gene symbolGM2A
Full nameGM2 ganglioside activator
Aliases,SAP-3,
Gene summaryThis 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]
LocationChromosome: 5   Locus: 5q31.3-q33.1
Gene position150632613 - 150649955  Map Viewer
Gene orientationplus
Gene size17343 bp
Gene sequence
OMIM ID613109