GM2A (GM2 ganglioside activator) gene is mapped to human chromosome 5q33.1. The 5' end of the gene exhibits promoter activity. This region is rich in GC-content and contains promoter elements, such as Sp1, AP2, cAMP-responsive element, and B-cell-specific activating protein. The protein is abundantly expressed in placenta, bone marrow, mammary gland, bladder, lymph node, and spleen.
Synonyms: Anti-Cerebroside sulfate activator protein; Anti-GM2-AP; Anti-Ganglioside GM2 activator precursor; Anti-SAP-3; Anti-Shingolipid activator protein 3
Storage: -20C
Application: All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry. The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: GM2A (GM2 ganglioside activator) gene encodes a small glycolipid transport protein that binds to ganglioside GM2 from membranes to form a GM2 ganglioside-GM2AP complex in the lysosome. The a and ß subunits of ß-hexosaminidase A interact with this complex and catalyze the cleavage of N-acetyl-D-galactosamine in GM2 to form GM3. Mutations in this gene can cause a neurodegenerative disease called GM2 gangliosidosis.
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