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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Ornithine carbamoyltransferase

Ornithine Carbamoyltransferase, ornithine transcarbamylase
This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on Ornithine Carbamoyltransferase
Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.
Ouyang et al., Evanston, United States. In J Perinatol, 2011
carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress.
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
Cederbaum et al., Los Angeles, United States. In Mol Genet Metab, 2010
In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test.
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.
Dvorakova et al., Praha, Czech Republic. In Hum Mutat, 2010
Mutations in the regulatory regions of OTC can lead to ornithine carbamoyltransferase deficiency and should be included in genetic testing.
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
Yoshino et al., Kurume, Japan. In J Hum Genet, 2010
These results indicate that mutant alleles with late-onset OCT deficiency syndrome have recurrently arisen, have been retained in some populations, and some appear to hvae a common ancestor.
Association of ornithine transcarbamylase gene polymorphisms with hypertension and coronary artery vasomotion.
Brousseau et al., Lille, France. In Am J Hypertens, 2009
OTC rs5963409 polymorphism may be associated with hypertension and coronary vasomotion in males
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