DISEASES

Disease-gene associations mined from literature

Literature associating GM2A and Tay-Sachs disease

GM2A [ENSP00000349687]

Cerebroside sulfate activator protein; 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.

Synonyms:  GM2A,  GM2Ap,  hGM2A,  E5RJD0,  P17900 ...

Linkouts:  STRING  Pharos  UniProt  OMIM