Aliases for OAT Gene
External Ids for OAT Gene
Previous GeneCards Identifiers for OAT Gene
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]
GeneCards Summary for OAT Gene
OAT (Ornithine Aminotransferase) is a Protein Coding gene. Diseases associated with OAT include Gyrate Atrophy Of Choroid And Retina and Choroid Disease. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and ornithine-oxo-acid transaminase activity. An important paralog of this gene is AGXT2.