Recombinant Human Ornithine carbamoyltransferase, mitochondrial (OTC)

1. Whole exome sequencing successfully identified disease-causing mutations including two novel ones: the c.209_210delAA (p.Lys70Argfs*17) and the c.850T>A (p.Tyr284Asn). PMID: 30223008
2. indicate that the proportion of about 20-30% of hepatocytes expressing the functional OTC protein is not sufficient to maintain metabolic stability. X-inactivation ratios assessed in liver biopsies taken from heterozygous females with X-linked disorders should not be considered representative of the whole liver PMID: 29623395
3. The measurement of serum ornithine carbamoyltransferase concentration may provide a useful marker of disease severity, and thus could be a useful marker for a high risk of hepatocellular carcinoma occurrence. PMID: 28824294
4. Low expression of OTC is associated with glioblastoma. PMID: 27431689
5. In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous. PMID: 25994866
6. 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. PMID: 26446336
7. 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 PMID: 25011434
8. 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 PMID: 25853564
9. OTC mutation and phenotype in ornithine transcarbamylase deficiency PMID: 26059767
10. 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 PMID: 25026867
11. HNF-4alpha most likely plays an essential role in the initiation of OTC transcription in human. PMID: 25056436
12. 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). PMID: 25297582
13. V339G and W332S mutations of OTC have been discovered for the first time PMID: 24711021
14. carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress. PMID: 21956151
15. 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. PMID: 20817516
16. Mutations in the regulatory regions of OTC can lead to ornithine carbamoyltransferase deficiency and should be included in genetic testing. PMID: 20127982
17. 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. PMID: 19893582
18. deficiency in ornithine carbamoyltransferase enzymatic function conferred by the R40H mutation is likely caused by enhanced degradation of the preprotein in the cytosol. PMID: 11768581
19. ornithine transcarbamylase (OTC) deficiency: review of mutations and polymorphisms in the human ornithine transcarbamylase gene PMID: 11793468
20. seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency PMID: 11793483
21. novel mutations in the ornithine transcarbamylase gene PMID: 12083811
22. Haplotype analysis and phylogeny of polymorphisms of this protein were studied in two male populations. PMID: 12516615
23. Using 2 (CA)n flanking markers of the OTC gene (DXS997 & DXS1068), the haplotypic background of 37 different mutational events was defined & compared with random control chromosomes. 1 particular haplotype is a risk factor for carrying OTC mutations. PMID: 15300856
24. Mutations in the human ornithine transcarbamylase (OTC) gene is detected in patients with Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency. PMID: 15692798
25. Novel mutations within the OTC gene are associated with Ornithine transcarbamylase (OTC) deficiency disorder. PMID: 16786505
26. Novel mutations p.Leu9X, p.Arg26Pro, p.Gly100Arg, p.Met205Thr, p.Lys221Asn, p.Asp249Gly, p.Phe281Ser, p.Val323Met, c.571delC, c.853delC, and c.796-805del are associated with OTC deficiency. PMID: 17041896
27. Describe a contiguous gene syndrome involving the RPGR, OTC and TM4SF2 genes in a male patient with severe neonatal ornithine transcarbamylase deficiency. PMID: 17570074
28. Data show that OCT/ALT is a potent indicator for the diagnosis and the prognosis of hepatocellular carcinoma. PMID: 17570354
29. our results suggest the involvement of a new pathway in AD brains involving the urea cycle. PMID: 17893704
30. In ten families with late-onset ornithine transcarbamylase (OTC) deficiency in male patients, three mutant alleles-R40H, R277W, and Y55D-were identified. PMID: 18030415
31. Two known and three novel mutations of the ornithine transcarbamylase (OTC) gene are reported in five Japanese patients with OTC deficieny including two neonatal-onset, one late-onset, and two symptomatic female patients. PMID: 18204299
32. The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD. PMID: 18983895
33. Deletions and gene rearrangements of OTC gene are associated with Ornithine Carbamoyltransferase Deficiency Disease. PMID: 19138872
34. Hypocitrullinemia in expanded newborn screening is not a reliable marker for OTCD. PMID: 19359120
35. the identification of novel disease-causing mutations in Ornithine transcarbamylase deficiency and increases the knowledge on possible mutational mechanisms generating deletions in ornithine transcaramylase. PMID: 19475717
36. OTC rs5963409 polymorphism may be associated with hypertension and coronary vasomotion in males PMID: 19574962

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HGNC: 8512

OMIM: 300461

KEGG: hsa:5009

STRING: 9606.ENSP00000039007

UniGene: Hs.117050