GAD2 Antibody – Mouse Monoclonal

This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]

GAD2: Catalyzes the production of GABA. Homodimer. Belongs to the group II decarboxylase family.

Protein type: Other Amino Acids Metabolism - taurine and hypotaurine; Lyase; Other Amino Acids Metabolism - beta-alanine; Carbohydrate Metabolism - butanoate; EC 4.1.1.15; Amino Acid Metabolism - alanine, aspartate and glutamate

Chromosomal Location of Human Ortholog: 10p11.23

Cellular Component: presynaptic membrane; Golgi membrane; synaptic vesicle membrane; axon; perinuclear region of cytoplasm; plasma membrane; cytosol; cell junction

Molecular Function: protein binding; glutamate binding; glutamate decarboxylase activity; protein heterodimerization activity; pyridoxal phosphate binding

Biological Process: response to drug; synaptic transmission; glutamate decarboxylation to succinate; neurotransmitter secretion; neurotransmitter biosynthetic process