Gene Symbol | OAT |
Entrez Gene ID | 4942 |
Full Name | ornithine aminotransferase |
Synonyms | GACR,HOGA,OATASE,OKT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jan 2010]. |
Disorder MIM: | |
Disorder Html: | Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3) |