GM2A Peptide - N-Terminal Region Blocking Peptide

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]

GM2A: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity. Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. Defects in GM2A are the cause of GM2-gangliosidosis type AB (GM2GAB); also known as Tay-Sachs disease AB variant. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2GAB is characterized by GM2 gangliosides accumulation in the presence of both hexosaminidase A and B.

Protein type: Mitochondrial; Activator

Chromosomal Location of Human Ortholog: 5q33.1

Cellular Component: lysosomal lumen; internal side of plasma membrane; apical cortex; mitochondrion; hydrogen:potassium-exchanging ATPase complex

Molecular Function: lipid transporter activity; beta-N-acetylgalactosaminidase activity; phospholipase activator activity

Biological Process: sequestering of lipid; oligosaccharide catabolic process; sphingolipid metabolic process; learning and/or memory; ganglioside catabolic process; positive regulation of hydrolase activity; glycosphingolipid metabolic process; lipid transport; neuromuscular process controlling balance

Disease: Gm2-gangliosidosis, Ab Variant