GM2A
GM2 ganglioside activator
Synonyms:
GM2-AP, SAP-3
Species:
Human GM2A (2760), Mouse Gm2a (14667), Rat Gm2a (282838), domestic cat GM2A (100174922), sheep GM2A (101105496), chicken GM2A (100857973), naked mole-rat Gm2a (101706300), domestic guinea pig Gm2a (100731438), Zebrafish gm2a (550529), Horse GM2A (100034082) ...More
UniProtKB ID:
Gene ID:
- Human(2760) 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]
- Mouse(14667) GM2 ganglioside activator protein
- Rat(282838) GM2 ganglioside activator
- domestic cat(100174922) GM2 ganglioside activator
- sheep(101105496) GM2 ganglioside activator
- chicken(100857973) GM2 ganglioside activator
- naked mole-rat(101706300) GM2 ganglioside activator
- domestic guinea pig(100731438) GM2 ganglioside activator
- Zebrafish(550529) GM2 ganglioside activator
- Horse(100034082) GM2 ganglioside activator
- cow(504524) GM2 ganglioside activator
- dog(479324) GM2 ganglioside activator
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