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OAT 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.
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The data highlight the importance of OAT in ornithine metabolism, especially in the liver, and suggest a post-transcriptional regulation of OAT by LPS (Montrer TLR4 Anticorps) in the liver.
in female and castrated male mice devoided of testosterone, OAT gene is highly expressed and L-ornithine is converted into L-glutamate (Montrer GRIN1 Anticorps).
In H4Flox liver, glutamine synthetase (GS (Montrer GLUL Anticorps)), ornithine aminotransferase (OAT) and thyroid hormone-receptor (Montrer THRA Anticorps) beta1 (TRbeta1 (Montrer THRB Anticorps)) were exclusively expressed in pericentral hepatocytes.
Sexual dimorphism of Oat expression in the kidney was observed.
Sequencing of the gene for ornithine aminotransferase reveals a homozygous mutation in our patient (base exchange c.498C>A in Exon 4).
Neurogenesis is inhibited by X-OAT during Xenopus embryonic development, but it is essential for Xenopus embryonic development. The Arg 180 and Leu 402 are crucial for these effects of the OAT molecule in development.
Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation.
We identified a novel frameshift mutation (p.K169DfsX10) in the OAT gene. While an early arginine-restricted dietary treatment suppressed the fundus changes
Data suggest that other factors besides the specific ornithine aminotransferase (OAT) genotype modulate atrophy of choroid and retina (GA) phenotype in patients.
OAT was a highly homologous and stable protein located in the mitochondria.
Molecular analysis revealed a new deletion c.532_536delTGGGG (p.Trp178X) and a known mutation c.897C>G (p.Tyr299X) in the OAT gene.
Fundus autofluorescence imaging can reveal the extent of neurosensory dysfunction in gyrate atrophy patients.
analysis of ornithine aminotransferase substrate specificity
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.
, ornithine aminotransferase
, ornithine aminotransferase precursor
, ornithine aminotransferase (gyrate atrophy)
, ornithine aminotransferase, mitochondrial
, ornithine--oxo-acid aminotransferase
, gyrate atrophy
, ornithine delta-aminotransferase
, ornithine-oxo-acid aminotransferase