Immunogen sequence: VKGIQKYKAK IVFAAGNFWG RTLSAISSST DPTSYDGFGP FMPGFDIIPY NDLPALERAL QDPNVAAFMV EPIQGEAGVV VPDPGYLMGV RELCTRHQVL FIADEIQTGL ARTGRWLAVD YENVRPDIVL LGKALSGGLY PVSAVLCDDD IMLTIKPGEH GSTYGGNPLG CRVAIAALEV LEEENLAENA DKLGIILRNE LMKLPSDVVT AVRGKGLLNA IVIKETKDWD AWKVCLRLRD NGLLAKPTHG DIIRFAPPLV IKEDELRESI EIINKTILSF; Positive Samples: SW480, MCF7, 293T, A-549, HepG2, Mouse liver, Mouse lung, Mouse kidney, Rat kidney; Cellular Location: Mitochondrion matrix
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.
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Protein Aliases: gyrate atrophy; ornithine aminotransferase (gyrate atrophy); Ornithine aminotransferase, hepatic form; Ornithine aminotransferase, mitochondrial; Ornithine aminotransferase, renal form; Ornithine delta-aminotransferase; Ornithine--oxo-acid aminotransferase; ornithine-oxo-acid aminotransferase; testicular tissue protein Li 130
Gene Aliases: AI194874; GACR; HOGA; OAT; OATASE; OKT; rOAT