The GM2A gene provides instructions for making a protein called the ganglioside GM2 activator. This protein is necessary for the normal function of an enzyme called beta-hexosaminidase A. Beta-hexosaminidase A and the ganglioside GM2 activator protein work together in lysosomes, which are compartments in the cell that digest and recycle different types of molecules. Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down.
Other Names
ganglioside GM2 activator; GM2 activator; GM2 ganglioside activator; GM2-AP; GM2AP; SAP-3
Related Genetics Topics
Identifiers
- NCBI Gene: 2760
- OMIM: 613109
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
