Aliases:This biomarker is also known as:
- cerebroside sulfate activator protein,
- GM2 ganglioside activator protein,
- GM2 ganglioside activator,
- sphingolipid activator protein 3,
GM2A, a small glycolipid transport protein, 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 of the GM2A gene results in multiple transcript variants. In post-translational modification the serines in positions 32 and 33 are absent in 80% of the sequenced protein.
|QA State:||Under Review|
There are no datasets associated with this biomarker.