Protein Name | ornithine aminotransferase |
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Organism | Homo sapiens |
Gene ID | 4942 |
Gene Symbol | OAT |
UniProt | P04181 (OAT_HUMAN), A0A140VJQ4 (A0A140VJQ4_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
104
Total Number of Articles : 125 |
Description |
ornithine aminotransferase |
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, Jan 2010] |
synonyms |
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Properties | |