GAD1 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 autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]

GAD67: Catalyzes the production of GABA. Homodimer. Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. Belongs to the group II decarboxylase family. 3 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 2q31

Cellular Component: plasma membrane; vesicle membrane; intracellular

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

Biological Process: response to drug; glutamate catabolic process; synaptic transmission; glutamate decarboxylation to succinate; neurotransmitter secretion; gamma-aminobutyric acid biosynthetic process; protein-pyridoxal-5-phosphate linkage; neurotransmitter biosynthetic process

Disease: Cerebral Palsy, Spastic Quadriplegic, 1