OAT is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA.
Mutations of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy.
This gene 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.