Rabbit anti-Human GAD1 Polyclonal Antibody | anti-GAD1 antibody
GAD1 Antibody - N-terminal region
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Amino Acid Metabolism - alanine, aspartate and glutamate; Other Amino Acids Metabolism - taurine and hypotaurine; Other Amino Acids Metabolism - beta-alanine; Carbohydrate Metabolism - butanoate; Lyase; EC 4.1.1.15; Mitochondrial
Chromosomal Location of Human Ortholog: 2q31
Cellular Component: plasma membrane; intracellular; vesicle membrane
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