Gene:
ornithine aminotransferase (gyrate atrophy)
Description:
OAT encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme is 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.