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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.
Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Extravillous trophoblasts, Hofbauer cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (BEWO, HBEC3-KT, hTCEpi)

Molecular function

Hydrolase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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