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GAD65 is 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.
Gene Name: | glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) |
Synonyms: | GAD2, GAD-65, Glutamate decarboxylase 2, GAD65 |
Target Sequences: | NM_000818 NP_000809.1 Q05329 |
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