{"symbol":"OAT","synonyms":["GACR","OKT","HOGA","OATASE"],"name":"ornithine aminotransferase","description":"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]","ncbiEntrezGeneId":4942,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4942","proteins":[{"symbol":"OAT_HUMAN","href":"/api/1.0/protein/OAT_HUMAN"}],"hgncRootFamilies":[]}