GM2A, Official Symbol GM2Aprovided by HGNC Official Full Name ganglioside GM2 activatorprovided by HGNC Primary source HGNC:HGNC:4367 See related Ensembl:ENSG00000196743 MIM:613109; AllianceGenome:HGNC:4367 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GM2AP; SAP-3; GM2-AP 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] Expression Ubiquitous expression in skin (RPKM 39.8), placenta (RPKM 38.5) and 24 other tissues See more Orthologs mouse all