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.
Alternative splicing results in multiple transcript variants that
encode the same protein.
