GAD1, Official Symbol GAD1provided by HGNC Official Full Name glutamate decarboxylase 1provided by HGNC Primary source HGNC:HGNC:4092 See related Ensembl:ENSG00000128683 MIM:605363; AllianceGenome:HGNC:4092 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GAD; SCP; CPSQ1; DEE89 Summary 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] Expression Biased expression in brain (RPKM 27.1) and kidney (RPKM 1.8) See more Orthologs mouse all