Entrez gene ID | | 4942 |
Official gene symbol | | OAT |
Full name | | ornithine aminotransferase |
Aliases | | ,DKFZp781A11155,GACR,HOGA,OATASE,OKT, |
Gene summary | | 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] |
Location | | Chromosome: 10 Locus: 10q26 |
Gene position | | 126107545 - 126085872 Map Viewer |
Gene orientation | | minus |
Gene size | | 21674 bp |
Gene sequence |
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OMIM ID | | 613349 |