Aliases for GAD2 Gene
External Ids for GAD2 Gene
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. [provided by RefSeq, Oct 2008]
GeneCards Summary for GAD2 Gene
GAD2 (Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kDa)) is a Protein Coding gene. Diseases associated with GAD2 include autoimmune polyglandular syndrome type 2 and congenital rubella. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include protein heterodimerization activity and glutamate binding. An important paralog of this gene is DDC.
UniProtKB/Swiss-Prot for GAD2 Gene
Catalyzes the production of GABA