rs368443364
This variant is located in the GM2A gene.
▶ClinVar annotation
Tay-Sachs disease, variant AB; Cervical cancer
View on ClinVar →About GM2A
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]
View all GM2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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