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MGP002148

Record overview

MGPD IDMGP002148
Gene ID4942
SpeciesHomo sapiens (Human)
Gene Nameornithine aminotransferase
Gene Symbol OAT
SynonymsOKT; GACR; HOGA; OATASE;
Alternate namesornithine aminotransferase, mitochondrial; gyrate atrophy; ornithine delta-aminotransferase; ornithine-oxo-acid aminotransferase;
Chromosome10
Map Location10q26
EC Number2.6.1.13
SummaryThis 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. [provided by RefSeq, Jan 2010]
OrthologsView orthologs and multiple alignments for OAT

Proteins

ornithine aminotransferase, mitochondrial isoform 1 precursor
Refseq ID:NP_000265
Protein GI:4557809
UniProt ID:P04181
mRNA ID:NM_000274
Length:439
RefSeq Status:
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNA
LKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPF
MPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYP
VSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF
 
ornithine aminotransferase, mitochondrial isoform 2
Refseq ID:NP_001165285
Protein GI:284507298
UniProt ID:P04181
mRNA ID:NM_001171814
Length:301
RefSeq Status:
MNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGV
VVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALE
VLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILS
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