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.ana G., Proc. Natl. Acad. Sci. U.S.A. 83:1203-1207(1986).Ramesh V., DNA 5:493-501(1986).
Host
Rabbit
Immunogen
Synthesized peptide derived from Internal of Human OAT.
Involvement In Disease
Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Raised In
Rabbit
Reactivity
Human, Mouse, Rat
Regulatory
RUO
Relevance
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.
ana G., Proc. Natl. Acad. Sci. U.S.A. 83:1203-1207(1986). Ramesh V., DNA 5:493-501(1986).
Species
Homo Sapiens (Human)
Specificity
The antibody detects endogenous levels of total OAT protein.