{"symbol":"GM2A","synonyms":["SAP-3","GM2-AP"],"name":"GM2 ganglioside activator","description":"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]","ncbiEntrezGeneId":2760,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2760","proteins":[{"symbol":"SAP3_HUMAN","href":"/api/1.0/protein/SAP3_HUMAN"}],"hgncRootFamilies":[]}