Anti-GM2A antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The human GM2A also known as GM2 activator protein functions mechanically as a lysosomal lipid transfer protein. It possesses a mass of approximately 23 kDa. It is expressed mainly in the tissues that have a high lysosomal activity like the brain. It binds specific glycolipids such as GM2 ganglioside facilitating their interaction with enzymatic components in the lysosome.

Biological function summary

The GM2A protein belongs to a family of proteins that assist in the degradation of complex lipids. It is an essential component of the ganglioside degradation process where it acts as a cofactor rather than being part of any complex. GM2A helps transfer lipids to enzymes such as β-hexosaminidase A ensuring proper breakdown and recycling of gangliosides particularly in neuronal tissues.

Pathways

GM2A plays an important role in the lysosomal degradation pathway specifically involving lipid metabolism. The degradation of gangliosides utilizes GM2A to facilitate interaction between GM2 ganglioside and proteins such as β-hexosaminidase A a necessary step in breaking down these complex lipids. Another significant pathway relates to its role in maintaining the balance of sphingolipid metabolism highlighting its collaboration with enzymes involved in this process.

Associated diseases and disorders

Impaired activity or mutation in GM2A can lead to lipid storage diseases notably Tay-Sachs disease. Errors in GM2A disrupt the breakdown of gangliosides resulting in harmful accumulation within lysosomes. This dysfunction also involves the β-hexosaminidase A enzyme reinforcing the link between these proteins in the pathological buildup of gangliosides associated with Tay-Sachs disease.