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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. 再加上，我们可以发OAT 抗体 (79) 和 OAT 蛋白 (14)和数多这个蛋白质的别的产品。
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OAT Val332-to-Met substitution identified in pyridoxine-responsive gyrate atrophy patients does not significantly affect the spectroscopic and kinetic properties of OAT, but during catalysis it makes the protein prone to convert into the apo-form, which undergoes unfolding and aggregation under physiological conditions.
identified Arg217 as an important hot-spot at the dimer-dimer interface of hOAT and demonstrated that the artificial dimeric variant R217A exhibits spectroscopic properties, Tm values and catalytic features similar to those of the tetrameric species. This finding indicates that the catalytic unit of hOAT is the dimer.
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