Aliases for GAD2 Gene
External Ids for GAD2 Gene
Previous GeneCards Identifiers 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) is a Protein Coding gene. Diseases associated with GAD2 include stiff-person syndrome and autoimmune polyglandular syndrome type 2. Among its related pathways are Metabolism and Butanoate metabolism. GO annotations related to this gene include protein heterodimerization activity and carboxy-lyase activity. An important paralog of this gene is DDC.
UniProtKB/Swiss-Prot for GAD2 Gene
Catalyzes the production of GABA.