Gene Review:
OTC - ornithine carbamoyltransferase
Homo sapiens
Synonyms:
OTCase, Ornithine carbamoyltransferase, mitochondrial, Ornithine transcarbamylase
- Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2. Mavri-Damelin, D., Eaton, S., Damelin, L.H., Rees, M., Hodgson, H.J., Selden, C. Int. J. Biochem. Cell Biol. (2007)
- Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Horwich, A.L., Fenton, W.A., Williams, K.R., Kalousek, F., Kraus, J.P., Doolittle, R.F., Konigsberg, W., Rosenberg, L.E. Science (1984)
- Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Roepman, R., van Duijnhoven, G., Rosenberg, T., Pinckers, A.J., Bleeker-Wagemakers, L.M., Bergen, A.A., Post, J., Beck, A., Reinhardt, R., Ropers, H.H., Cremers, F.P., Berger, W. Hum. Mol. Genet. (1996)
- Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hentzen, D., Pelet, A., Feldman, D., Rabier, D., Berthelot, J., Munnich, A. Hum. Genet. (1991)
- Effect on smoking cessation of switching nicotine replacement therapy to over-the-counter status. Thorndike, A.N., Biener, L., Rigotti, N.A. American journal of public health. (2002)
- Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. Maestri, N.E., Clissold, D., Brusilow, S.W. J. Pediatr. (1999)
- The decision-making process of us food and drug administration advisory committees on switches from prescription to over-the-counter status: A comparative case study. Nguyen, N.T., Cook, D.M., Bero, L.A. Clinical therapeutics. (2006)
- The effect of alcohol abuse on the risk of NSAID-related gastrointestinal events. Neutel, C.I., Appel, W.C. Annals of epidemiology. (2000)
- Individual differences in salivary cortisol: associations with common over-the-counter and prescription medication status in infants and their mothers. Hibel, L.C., Granger, D.A., Kivlighan, K.T., Blair, C. Hormones and behavior. (2006)
- A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Meindl, A., Dry, K., Herrmann, K., Manson, F., Ciccodicola, A., Edgar, A., Carvalho, M.R., Achatz, H., Hellebrand, H., Lennon, A., Migliaccio, C., Porter, K., Zrenner, E., Bird, A., Jay, M., Lorenz, B., Wittwer, B., D'Urso, M., Meitinger, T., Wright, A. Nat. Genet. (1996)
- Long-term treatment of girls with ornithine transcarbamylase deficiency. Maestri, N.E., Brusilow, S.W., Clissold, D.B., Bassett, S.S. N. Engl. J. Med. (1996)
- Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. Arn, P.H., Hauser, E.R., Thomas, G.H., Herman, G., Hess, D., Brusilow, S.W. N. Engl. J. Med. (1990)
- Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. Hauser, E.R., Finkelstein, J.E., Valle, D., Brusilow, S.W. N. Engl. J. Med. (1990)
- Risk of serious upper gastrointestinal toxicity with over-the-counter nonaspirin nonsteroidal anti-inflammatory drugs. Lewis, J.D., Kimmel, S.E., Localio, A.R., Metz, D.C., Farrar, J.T., Nessel, L., Brensinger, C., McGibney, K., Strom, B.L. Gastroenterology (2005)
- Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. Ye, X., Robinson, M.B., Batshaw, M.L., Furth, E.E., Smith, I., Wilson, J.M. J. Biol. Chem. (1996)
- The toxicology of hydroquinone--relevance to occupational and environmental exposure. DeCaprio, A.P. Crit. Rev. Toxicol. (1999)
- Synthesis and in vitro anti-HIV activity in human monocyte-derived macrophages of 2-oxothiazolidine-4(R)-carboxylic acid derivatives. Oiry, J., Puy, J.Y., Mialocq, P., Clayette, P., Fretier, P., Jaccard, P., Dereuddre-Bosquet, N., Dormont, D., Imbach, J.L. J. Med. Chem. (1999)
- Biocompatibility of solid-dosage forms of anti-human immunodeficiency virus type 1 microbicides with the human cervicovaginal mucosa modeled ex vivo. Trifonova, R.T., Pasicznyk, J.M., Fichorova, R.N. Antimicrob. Agents Chemother. (2006)
- Pegylated Recombinant Human Arginase (rhArg-peg5,000mw) Inhibits the In vitro and In vivo Proliferation of Human Hepatocellular Carcinoma through Arginine Depletion. Cheng, P.N., Lam, T.L., Lam, W.M., Tsui, S.M., Cheng, A.W., Lo, W.H., Leung, Y.C. Cancer Res. (2007)
- Underexpressed Coactivators PGC1{alpha} AND SRC1 Impair Hepatocyte Nuclear Factor 4{alpha} Function and Promote Dedifferentiation in Human Hepatoma Cells. Mart??nez-Jim??nez, C.P., G??mez-Lech??n, M.J., Castell, J.V., Jover, R. J. Biol. Chem. (2006)
- Mental retardation locus in Xp21 chromosome microdeletion. Fries, M.H., Lebo, R.V., Schonberg, S.A., Golabi, M., Seltzer, W.K., Gitelman, S.E., Golbus, M.S. Am. J. Med. Genet. (1993)
- Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. Climent, C., García-Pérez, M.A., Sanjurjo, P., Ruiz-Sanz, J.I., Vilaseca, M.A., Pineda, M., Campistol, J., Rubio, V. Hum. Mutat. (1999)
- Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide. Horwich, A.L., Kalousek, F., Fenton, W.A., Pollock, R.A., Rosenberg, L.E. Cell (1986)
- Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Rozen, R., Fox, J., Fenton, W.A., Horwich, A.L., Rosenberg, L.E. Nature (1985)
- Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. Carstens, R.P., Fenton, W.A., Rosenberg, L.R. Am. J. Hum. Genet. (1991)
- Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. Matsuda, I., Matsuura, T., Nishiyori, A., Komaki, S., Hoshide, R., Matsumoto, T., Funakoshi, M., Kiwaki, K., Endo, F., Hata, A., Shimadzu, M., Yoshino, M. J. Med. Genet. (1996)
- Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. Yu, W., Lin, Y., Yao, J., Huang, W., Lei, Q., Xiong, Y., Zhao, S., Guan, K.L. J. Biol. Chem. (2009)
- Cholestatic Jaundice and IgA Nephropathy Induced by OTC Muscle Building Agent Superdrol. Jasiurkowski, B., Raj, J., Wisinger, D., Carlson, R., Zou, L., Nadir, A. Am. J. Gastroenterol. (2006)
- An investigation of the factors affecting community pharmacists' selection of over the counter preparations. Kennedy, E., Moody, M. Pharmacy world & science : PWS. (2000)
- Phenotype-genotype correlations in X linked retinitis pigmentosa. Kaplan, J., Pelet, A., Martin, C., Delrieu, O., Aymé, S., Bonneau, D., Briard, M.L., Hanauer, A., Larget-Piet, L., Lefrançois, P. J. Med. Genet. (1992)
- Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Teague, P.W., Aldred, M.A., Jay, M., Dempster, M., Harrison, C., Carothers, A.D., Hardwick, L.J., Evans, H.J., Strain, L., Brock, D.J. Am. J. Hum. Genet. (1994)
- Human X chromosome markers and Duchenne muscular dystrophy. Davies, K.E., Speer, A., Herrmann, F., Spiegler, A.W., McGlade, S., Hofker, M.H., Briand, P., Hanke, R., Schwartz, M., Steinbicker, V. Nucleic Acids Res. (1985)
- Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. Wright, A.F., Bhattacharya, S.S., Aldred, M.A., Jay, M., Carothers, A.D., Thomas, N.S., Bird, A.C., Jay, B., Evans, H.J. J. Med. Genet. (1991)
- Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Musarella, M.A., Weleber, R.G., Murphey, W.H., Young, R.S., Anson-Cartwright, L., Mets, M., Kraft, S.P., Polemeno, R., Litt, M., Worton, R.G. Genomics (1989)
- An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. Lee, J.T., Nussbaum, R.L. J. Clin. Invest. (1989)
- Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon. Ploechl, E., Ploechl, W., Stoeckler-Ipsiroglu, S., Pokorny, H., Wermuth, B. Clin. Genet. (2001)
- Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region. Hata, A., Tsuzuki, T., Shimada, K., Takiguchi, M., Mori, M., Matsuda, I. J. Biochem. (1986)