NCBI Description of OAT
|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.|
Community Annotation of OAT Add / Edit OAT: Annotations
No community annotations yet for OAT.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.