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OAT 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.
Gene Name: | ornithine aminotransferase |
Synonyms: | OAT, GACR, HOGA, OKT, Gyrate atrophy, OATASE, Ornithine aminotransferase |
Target Sequences: | NM_000274 NP_000265.1 P04181 |
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