Results for "gm2-gangliosidosis, several forms": 4 genes

Name

MGR6 Gene

Migraine, several forms

GM2AP1 Gene

GM2 ganglioside activator pseudogene 1

GM2AP2 Gene

GM2 ganglioside activator pseudogene 2

GM2A Gene

GM2 ganglioside activator

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]