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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]
P04181 [Direct mapping] Ornithine aminotransferase, mitochondrial Ornithine aminotransferase, hepatic form Ornithine aminotransferase, renal form
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Enzymes ENZYME proteins Transferases MEMSAT3 predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
P04181 [Direct mapping] Ornithine aminotransferase, mitochondrial Ornithine aminotransferase, hepatic form Ornithine aminotransferase, renal form
Show all
Enzymes ENZYME proteins Transferases MEMSAT3 predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
