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Official Full Name
ornithine aminotransferase
Background
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.
Synonyms
OAT; ornithine aminotransferase; ornithine aminotransferase, mitochondrial; gyrate atrophy; HOGA; ornithine aminotransferase precursor; GACR; OATASE; OKT; Ornithine aminotransferase (gyrate atrophy); Ornithine aminotransferase mitochondrial; Ornithine aminotransferase, mitochondrial precursor; Ornithine delta aminotransferase; Ornithine oxo acid aminotransferase; OTTHUMP00000020690; ornithine delta-aminotransferase; ornithine-delta-aminotransferase; ornithine-oxo-acid aminotransferase; ornithine--oxo-acid aminotransferase; DKFZp781A11155; organic anion transporter; slc22a6; zgc:77073; solute carrier family 22 member 6; ROAT1; zfOat; organic anion transporter 1; renal organic anion transporter 1

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