Gene Review:
PPOX - protoporphyrinogen oxidase
Homo sapiens
Synonyms:
PPO, Protoporphyrinogen oxidase, V290M, VP
- Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Whatley, S.D., Puy, H., Morgan, R.R., Robreau, A.M., Roberts, A.G., Nordmann, Y., Elder, G.H., Deybach, J.C. Am. J. Hum. Genet. (1999)
- Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism. Norton, B., Lanyon, W.G., Moore, M.R., Porteous, M., Youngs, G.R., Connor, J.M. Hum. Genet. (1993)
- Examination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthase. Dailey, T.A., Woodruff, J.H., Dailey, H.A. Biochem. J. (2005)
- Molecular characterization of homozygous variegate porphyria. Roberts, A.G., Puy, H., Dailey, T.A., Morgan, R.R., Whatley, S.D., Dailey, H.A., Martasek, P., Nordmann, Y., Deybach, J.C., Elder, G.H. Hum. Mol. Genet. (1998)
- Molecular cloning and characterization of a cDNA that encodes protoporphyrinogen oxidase of Arabidopsis thaliana. Narita, S., Tanaka, R., Ito, T., Okada, K., Taketani, S., Inokuchi, H. Gene (1996)
- Composite carbon paste biosensor for phenolic derivatives based on in situ electrogenerated polypyrrole binder. Mailley, P., Cummings, E.A., Mailley, S.C., Eggins, B.R., McAdams, E., Cosnier, S. Anal. Chem. (2003)
- The next generation of managed mental health care. Rodriguez, A., Lee, F.C. Health cost management. (1987)
- Monopolies, Maricopa, and marketing: a case study. Perkins, J., Mercer, A., McClary, C. Hospital & health services administration. (1986)
- A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Meissner, P.N., Dailey, T.A., Hift, R.J., Ziman, M., Corrigall, A.V., Roberts, A.G., Meissner, D.M., Kirsch, R.E., Dailey, H.A. Nat. Genet. (1996)
- Chester porphyria: biochemical studies of a new form of acute porphyria. McColl, K.E., Thompson, G.G., Moore, M.R., Goldberg, A., Church, S.E., Qadiri, M.R., Youngs, G.R. Lancet (1985)
- Crystal structure of protoporphyrinogen IX oxidase: a key enzyme in haem and chlorophyll biosynthesis. Koch, M., Breithaupt, C., Kiefersauer, R., Freigang, J., Huber, R., Messerschmidt, A. EMBO J. (2004)
- Neuron-specific expression and physiological regulation of bovine vasopressin transgenes in mice. Ang, H.L., Carter, D.A., Murphy, D. EMBO J. (1993)
- Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases. Maneli, M.H., Corrigall, A.V., Klump, H.H., Davids, L.M., Kirsch, R.E., Meissner, P.N. Biochim. Biophys. Acta (2003)
- Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. Frank, J., Jugert, F.K., Breitkopf, C., Goerz, G., Merk, H.F., Christiano, A.M. Am. J. Med. Genet. (1998)
- Platelet factor 4 mRNA expression in cells from a patient with megakaryoblastic crisis of chronic myelogenous leukemia. Ryo, R., Adachi, M., Sugano, W., Yasunaga, M., Yoshida, A., Jikai, J., Saigo, K., Yamaguchi, N., Akita, H., Yokoyama, M. Cancer (1991)
- Protoporphyrin IX fluorescence kinetics in C6 glioblastoma cells after delta-aminolevulinic acid incubation: effect of a protoporphyrinogen oxidase inhibitor. Carre, J., Eleouet, S., Rousset, N., Vonarx, V., Heyman, D., Lajat, Y., Patrice, T. Cell. Mol. Biol. (Noisy-le-grand) (1999)
- A simple fluorimetric assay for pyridoxamine phosphate oxidase in erythrocyte haemolysates: effects of riboflavin supplementation and of glucose 6-phosphate dehydrogenase deficiency. Bates, C.J., Powers, H.J. Human nutrition. Clinical nutrition. (1985)
- Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Deybach, J.C., Puy, H., Robréau, A.M., Lamoril, J., Da Silva, V., Grandchamp, B., Nordmann, Y. Hum. Mol. Genet. (1996)
- The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Taketani, S., Inazawa, J., Abe, T., Furukawa, T., Kohno, H., Tokunaga, R., Nishimura, K., Inokuchi, H. Genomics (1995)
- Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. von und zu Fraunberg, M., Timonen, K., Mustajoki, P., Kauppinen, R. Eur. J. Hum. Genet. (2002)
- Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Gouya, L., Puy, H., Robreau, A.M., Lyoumi, S., Lamoril, J., Da Silva, V., Grandchamp, B., Deybach, J.C. Hum. Genet. (2004)
- Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. Puy, H., Robréau, A.M., Rosipal, R., Nordmann, Y., Deybach, J.C. Biochem. Biophys. Res. Commun. (1996)
- Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria. Morgan, R.R., Errington, R., Elder, G.H. Biochem. J. (2004)
- Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. Nishimura, K., Taketani, S., Inokuchi, H. J. Biol. Chem. (1995)
- Variant acute intermittent porphyria in a child. Badcock, N.R., Zoanetti, G.D., O'Reilly, D.A., Robertson, E.F. Clin. Chem. (1990)
- The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. Brenner, D.A., Bloomer, J.R. N. Engl. J. Med. (1980)
- The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Frank, J., Poh-Fitzpatrick, M.B., King, L.E., Christiano, A.M. Arch. Dermatol. Res. (1998)
- Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias. Dailey, H.A., Dailey, T.A. Cell. Mol. Biol. (Noisy-le-grand) (1997)
- The modification of acetate and propionate side chains during the biosynthesis of haem and chlorophylls: mechanistic and stereochemical studies. Akhtar, M. Ciba Found. Symp. (1994)
- Systemin activates synthesis of wound-inducible tomato leaf polyphenol oxidase via the octadecanoid defense signaling pathway. Constabel, C.P., Bergey, D.R., Ryan, C.A. Proc. Natl. Acad. Sci. U.S.A. (1995)
- Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase. von und zu Fraunberg, M., Nyröen, T., Kauppinen, R. J. Biol. Chem. (2003)
- Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. de Villiers, J.N., Kotze, M.J., van Heerden, C.J., Sadie, A., Gardner, H.F., Liebenberg, J., van Zyl, R., du Plessis, L., Kimberg, M., Frank, J., Warnich, L. Exp. Dermatol. (2005)
- Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families. Kotze, M.J., De Villiers, J.N., Groenewald, J.Z., Rooney, R.N., Loubser, O., Thiart, R., Oosthuizen, C.J., van Niekerk, M.M., Groenewald, I.M., Retief, A.E., Warnich, L. Mol. Cell. Probes (1998)
- Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. Meissner, P.N., Day, R.S., Moore, M.R., Disler, P.B., Harley, E. Eur. J. Clin. Invest. (1986)