Description
Product Characteristics:
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.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: Glutamate decarboxylase 2, GAD2, 65 kDa glutamic acid decarboxylase, GAD-65, Glutamate decarboxylase 65 kDa isoform, Glutamate decarboxylase 1, GAD1, 67 kDa glutamic acid decarboxylase, GAD-67, Glutamate decarboxylase 67 kDa isoform
Target Information: 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]