HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

GM2A ( Human )

Entrez Gene 2760 entrezgene 2760
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GM2 ganglioside activator

Alias

GM2-AP | SAP-3

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].