OAT, Official Symbol OATprovided by HGNC Official Full Name ornithine aminotransferaseprovided by HGNC Primary source HGNC:HGNC:8091 See related Ensembl:ENSG00000065154 MIM:613349; AllianceGenome:HGNC:8091 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 OKT; GACR; HOGA; OATASE Summary This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010] Expression Broad expression in small intestine (RPKM 198.3), duodenum (RPKM 185.5) and 20 other tissues See more Orthologs mouse all