Recombinant Human Ornithine aminotransferase, mitochondrial (OAT)

Uniprot Id

P04181

Target Species

Human

Target Name

OAT

Target Full Name

Ornithine aminotransferase, mitochondrial

Target Function

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

Target Involvement

Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

Class-III pyridoxal-phosphate-dependent aminotransferase family

Target Synonyms

OAT; Ornithine aminotransferase; mitochondrial; EC 2.6.1.13; Ornithine delta-aminotransferase; Ornithine--oxo-acid aminotransferase) [Cleaved into: Ornithine aminotransferase; hepatic form; Ornithine aminotransferase; renal form]

Target Background

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.