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 Autoimmune Polyendocrine Syndrome, Type Ii and Stiff-Person Syndrome. Among its related pathways are Beta-alanine metabolism (TR) and Butanoate metabolism. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and carboxy-lyase activity. An important paralog of this gene is GAD1.
UniProtKB/Swiss-Prot Summary for GAD2 Gene
Catalyzes the production of GABA.