Protein Name ornithine aminotransferase
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
  • ornithine aminotransferase, mitochondrial
  • gyrate atrophy
  • ornithine delta-aminotransferase
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Properties