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GM2A Protein, Antibody, ELISA Kit, cDNA Clone

GM2A Related Areas

GM2A Related Pathways

GM2A Related Product

    GM2A Summary & Protein Information

    GM2A Background

    Gene Summary: 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.
    General information above from NCBI
    Subcellular location: Lysosome.
    Post-translational: The serines in positions 32 and 33 are absent in 80% of the sequenced protein.
    Involvement in disease: GM2-gangliosidosis AB (GM2GAB) [MIM:272750]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. Note=The disease is caused by mutations affecting the gene represented in this entry.

    GM2A (GM2 ganglioside activator), is a lipid transfer protein which belongs to the ML domain family. GM2A can accommodate several single chain phospholipids and fatty acids. It also exhibits some calcium-independent phospholipase activity. GM2A binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. GM2A acts as a substrate specific co-factor for the lysosomal enzyme β-hexosaminidase A. β-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. 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.

    GM2A Alternative Name

    cerebroside sulfate activator protein,ganglioside GM2 activator,GM2-AP,SAP-3,shingolipid activator protein 3,sphingolipid activator protein 3, [human]
    cerebroside sulfate activator protein,ganglioside GM2 activator,GM2-AP,SAP-3,shingolipid activator protein 3, [mouse]

    GM2A Related Studies

  • Higashi K, et al. (2010) A novel adipokine GM2AP impairs insulin signaling. Biochem Biophys Res Commun. 402(3):571-6.
  • Higashi K, et al. (2011) Adipokine ganglioside GM2 activator protein stimulates insulin secretion. FEBS Let. 585(16):2587-91.
  • Wright CS, et al. (2003) Structural analysis of lipid complexes of GM2-activator protein. J Mol Biol. 331(4):951-64.
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