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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.
AA408702; AW215435; cerebroside sulfate activator protein; Ganglioside GM2 activator; Ganglioside GM2 activator isoform short; GM2 ganglioside activator; GM2 ganglioside activator protein; Gm2a; GM2-AP; SAP-3; shingolipid activator protein 3; sphingolipid activator protein 3
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