Aliases for GAD1 Gene
External Ids for GAD1 Gene
Previous HGNC Symbols for GAD1 Gene
Previous GeneCards Identifiers for GAD1 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 autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]
GeneCards Summary for GAD1 Gene
GAD1 (Glutamate Decarboxylase 1) is a Protein Coding gene. Diseases associated with GAD1 include Cerebral Palsy, Spastic Quadriplegic, 1 and Developmental And Epileptic Encephalopathy 89. 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 pyridoxal phosphate binding. An important paralog of this gene is GAD2.
UniProtKB/Swiss-Prot Summary for GAD1 Gene
Catalyzes the production of GABA.