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 Polyendocrine Syndrome, Type Ii. Among its related pathways are Transmission across Chemical Synapses and Alanine and aspartate 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.