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.

ornithine aminotransferase

Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate.

Arginine catabolic process to glutamateManual Assertion Based On ExperimentIBA:GO_Central
Arginine catabolic process to proline via ornithineManual Assertion Based On ExperimentIBA:GO_Central
L-proline biosynthetic processIEA:UniProtKB-UniPathway
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Mitochondrion matrix

Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA):
A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.