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This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme is 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.
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Protein Aliases: GACR; gyrate atrophy; HOGA; mitochondrial; OATASE; OKT; ornithine aminotransferase; Ornithine aminotransferase, hepatic form; Ornithine aminotransferase, mitochondrial; Ornithine aminotransferase, renal form; Ornithine delta-aminotransferase; Ornithine--oxo-acid aminotransferase; ornithine-delta-aminotransferase; ornithine-oxo-acid aminotransferase; testicular tissue protein Li 130
Gene Aliases: AI194874; GACR; HOGA; OAT; OATASE; OKT