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This nuclear gene encodes a mitochondrial matrix enzyme. Zusätzlich bieten wir Ihnen Ornithine Carbamoyltransferase Antikörper (105) und Ornithine Carbamoyltransferase Proteine (19) und viele weitere Produktgruppen zu diesem Protein an.
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In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous.
Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in a child with hyperammonemia and his asymptomatic mother.
Ornithine transcarbamylase deficiency was genetically heterogeneous in seven Korean patients with confirmed ornithine transcarbamylase deficiency diagnosis by biochemical findings and/or genetic analysis, together with two novel mutations in the OTC gene
The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences
OTC mutation and phenotype in ornithine transcarbamylase deficiency
aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations
HNF-4alpha (zeige HNF4A ELISA Kits) most likely plays an essential role in the initiation of OTC transcription in human.
Data indicate that all of the three patients have carried ornithine transcarbamylase gene mutations, patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N).
V339G and W332S mutations of OTC have been discovered for the first time
carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress.
Gene correction in adult OTC-deficient mice was lower and accompanied by larger deletions that ablated residual expression from the endogenous OTC gene, leading to diminished protein tolerance and lethal hyperammonemia on a chow diet
Serum OCT (zeige Plxna2 ELISA Kits) seemed to reflect tumor necrosis factor-alpha (zeige TNF ELISA Kits)-mediated hepatic damage in diabetic obese mice and could be useful in the application for non-alcoholic fatty liver disease with features of metabolic syndrome, such as obesity and diabetes.
in vivo regulation by HNF4alpha (zeige HNF4A ELISA Kits)
Results highlight the importance of the interaction between the OTC spf-ash mutation (ornithine transcarbamylase deficiency) and genetic backgrounds on metabolic phenotypes (ureagenesis, arginine metabolism, and nitric oxide production).
Phenotypic correction of OTC deficiency using low-dose helper-dependent adenoviral vectors is reported.
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
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.
, ornithine carbamoyltransferase, mitochondrial
, ornithine transcarbamylase
, sparse fur