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gm2a

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Official Full Name
GM2 ganglioside activator
Background
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.
Synonyms
GM2A; GM2 ganglioside activator; GM2 ganglioside activator protein; ganglioside GM2 activator; cerebroside sulfate activator protein; SAP 3; sphingolipid activator protein 3; Ganglioside GM2 activator isoform short; Ganglioside GM2 activator precursor; GM2 AP; GM2-AP; GM2AP; OTTHUMP00000160619; SAP-3; SAP3; SAP3_HUMAN; Shingolipid activator protein 3; GM2-AP;GM2A; fb96e04; fb96e10; wu:fb96e04; wu:fb96e10; zgc:110188