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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)
Top mentioned proteins: ACID, HAD, CAN, AGE, Arginase
Papers on Ornithine Carbamoyltransferase
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Hoffmann et al., Heidelberg, Germany. In Mol Genet Metab, Jan 2016
Although the (13)C-ureagenesis assay revealed no significant differences between individual urea cycle enzyme defects, it reflected the heterogeneity between different clinical subgroups, including male neonatal onset ornithine carbamoyltransferase deficiency.
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years.
Hoffmann et al., Heidelberg, Germany. In J Inherit Metab Dis, Jan 2016
Random effects meta-analysis was done for four UCDs, deficiency of carbamylphosphate synthetase 1 (CPS1D), male/female ornithine transcarbamylase (OTCDm/f), argininosuccinate synthetase (ASSD) and lyase (ASLD).
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Haberal et al., Ankara, Turkey. In Exp Clin Transplant, Nov 2015
Patients presented with late-onset ornithine transcarbamylase deficiency, argininosuccinate lyase deficiency, and citrullinemia.
Outline of metabolic diseases in adult neurology.
Mochel, Paris, France. In Rev Neurol (paris), Jun 2015
Genetic counseling is mandatory in some X-linked diseases - ornithine transcarbamylase deficiency and adrenoleukodystrophy - and recommended in maternally inherited mitochondrial diseases - mutations of mitochondrial DNA.
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Morizono et al., Washington, D.C., United States. In J Genet Genomics, Jun 2015
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle.
Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.
Alsaadi et al., Abu Dhabi, United Arab Emirates. In J Med Case Reports, 2014
Ornithine transcarbamylase deficiency presents most commonly with hyperammonemic coma.
From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases.
Tuchman et al., Washington, D.C., United States. In Int J Mol Sci, 2014
The two best-characterized members, aspartate transcarbamylase (ATCase) and ornithine transcarbamylase (OTCase), are present in most organisms from bacteria to humans.
LON is the master protease that protects against protein aggregation in human mitochondria through direct degradation of misfolded proteins.
Truscott et al., Melbourne, Australia. In Sci Rep, 2014
To address this gap in knowledge we examined the contribution of human mitochondrial matrix proteases, LONM and CLPXP, to the turnover of OTC-∆, a folding incompetent mutant of ornithine transcarbamylase, known to activate UPR(mt).
A longitudinal study of urea cycle disorders.
Members of the Urea Cycle Disorders Consortium et al., Washington, D.C., United States. In Mol Genet Metab, 2014
The most common disorder is ornithine transcarbamylase deficiency, accounting for more than half of the participants.
Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.
Gropman et al., Georgetown, United States. In Mol Genet Metab, 2014
Our previous imaging research performed as part of a Urea Cycle Rare Disorders Consortium (UCRDC) grant, has identified specific biomarkers of neurologic injury in ornithine transcarbamylase deficiency, OTCD.
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
Long-term treatment of girls with ornithine transcarbamylase deficiency.
Bassett et al., Baltimore, United States. In N Engl J Med, 1996
BACKGROUND: Ornithine transcarbamylase is an X-linked mitochondrial enzyme that catalyzes the synthesis of citrulline from carbamoyl phosphate and ornithine.
Mechanism of GroEL action: productive release of polypeptide from a sequestered position under GroES.
Horwich et al., New Haven, United States. In Cell, 1995
Single turnover experiments with ornithine transcarbamylase reveal that polypeptide is productively released from the cis but not the trans complex.
Avian and Mammalian mitochondrial ammonia-detoxifying systems in tortoise liver.
Vorhaben et al., In Science, 1985
Tortoise mitochondria also contain carbamyl phosphate synthetase-I and ornithine transcarbamylase, the enzymes used by mammals for this purpose.
Repression of ornithine transcarbamylase protein formation by arginine.
ROGERS, In Science, 1961
Arginine-repressed cells of Escherichia coli W do not form a protein immunologically related to ornithine transcarbamylase.
Suppressor of pyrimidine 3 mutants of Neurospora and its relation to arginine synthesis.
DAVIS, In Science, 1961
The effect of a suppressor mutation which renders pyr 3a pyrimidine-independent is to reduce arginine levels in the mycelium by its effect on ornithine transcarbamylase.
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