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
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