PPOX

Protoporphyrinogen oxidase, also known as PPOX, is a human gene.cite web | title = Entrez Gene: PPOX protoporphyrinogen oxidase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5498| accessdate = ]

PBB_Summary
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summary_text = This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. This protein is a flavoprotein associated with the outer surface of the inner mitochondrial membrane. Mutations in this gene cause variegate porphyria.cite web | title = Entrez Gene: PPOX protoporphyrinogen oxidase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5498| accessdate = ]

PPOX (protoporphyrinogen oxidase) is a human gene that produces an enzyme called protoporphyrinogen oxidase. This enzyme is responsible for the seventh step in heme production. Heme is the portion of hemoglobin that carries oxygen in the blood from the lungs to the rest of the body. Each of the steps in heme production is controlled by a separate gene (see below). Protoporphyrinogen oxidase removes hydrogen atoms from protoporphyrinogen IX (the product of the sixth step in the production of heme) to form protoporphyrin IX. One additional enzyme must modify protoporphyrin IX before it becomes heme.

The PPOX gene is located on the long (q) arm of chromosome 1 at position 22, from base pair 157,949,266 to base pair 157,954,082.

The following genes are part of the chemical pathway for making heme.

* "ALAD": aminolevulinate, delta-, dehydratase
* "ALAS1": aminolevulinate, delta-, synthase 1
* "ALAS2": aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
* "CPOX": coproporphyrinogen oxidase
* "FECH": ferrochelatase (protoporphyria)
* "HMBS": hydroxymethylbilane synthase
* "PPOX": protoporphyrinogen oxidase
* "UROD": uroporphyrinogen decarboxylase
* "UROS": uroporphyrinogen III synthase (congenital erythropoietic porphyria)

Related conditions

Variegate porphyria is caused by mutations in the PPOX gene. More than 100 mutations that can cause variegate porphyria have been identified in the PPOX gene. One mutation, a substitution of the amino acid tryptophan for arginine at position 59 (also written as Arg59Trp or R59W), is found in about 95 percent of South African families with variegate porphyria. Mutations in the PPOX gene reduce the activity of the enzyme made by the gene, allowing byproducts of heme production to build up in the body. This buildup, in combination with nongenetic factors (such as certain drugs, alcohol and dieting), causes this type of porphyria.

References

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*"This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] "

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Nishimura K, Taketani S, Inokuchi H |title=Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. |journal=J. Biol. Chem. |volume=270 |issue= 14 |pages= 8076–80 |year= 1995 |pmid= 7713909 |doi=
*cite journal | author=Dailey TA, Meissner P, Dailey HA |title=Expression of a cloned protoporphyrinogen oxidase. |journal=J. Biol. Chem. |volume=269 |issue= 2 |pages= 813–5 |year= 1994 |pmid= 8288631 |doi=
*cite journal | author=Dailey TA, Dailey HA, Meissner P, Prasad AR |title=Cloning, sequence, and expression of mouse protoporphyrinogen oxidase. |journal=Arch. Biochem. Biophys. |volume=324 |issue= 2 |pages= 379–84 |year= 1996 |pmid= 8554330 |doi= 10.1006/abbi.1995.0051
*cite journal | author=Taketani S, Inazawa J, Abe T, "et al." |title=The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. |journal=Genomics |volume=29 |issue= 3 |pages= 698–703 |year= 1996 |pmid= 8575762 |doi= 10.1006/geno.1995.9949
*cite journal | author=Meissner PN, Dailey TA, Hift RJ, "et al." |title=A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 95–7 |year= 1996 |pmid= 8673113 |doi= 10.1038/ng0596-95
*cite journal | author=Dailey TA, Dailey HA |title=Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme. |journal=Protein Sci. |volume=5 |issue= 1 |pages= 98–105 |year= 1996 |pmid= 8771201 |doi=
*cite journal | author=Puy H, Robréau AM, Rosipal R, "et al." |title=Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. |journal=Biochem. Biophys. Res. Commun. |volume=226 |issue= 1 |pages= 226–30 |year= 1996 |pmid= 8806618 |doi= 10.1006/bbrc.1996.1337
*cite journal | author=Deybach JC, Puy H, Robréau AM, "et al." |title=Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. |journal=Hum. Mol. Genet. |volume=5 |issue= 3 |pages= 407–10 |year= 1997 |pmid= 8852667 |doi=
*cite journal | author=Lam H, Dragan L, Tsou HC, "et al." |title=Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene. |journal=Hum. Genet. |volume=99 |issue= 1 |pages= 126–9 |year= 1997 |pmid= 9003509 |doi=
*cite journal | author=Dailey HA, Dailey TA |title=Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias. |journal=Cell. Mol. Biol. (Noisy-le-grand) |volume=43 |issue= 1 |pages= 67–73 |year= 1997 |pmid= 9074790 |doi=
*cite journal | author=Frank J, Poh-Fitzpatrick MB, King LE, Christiano AM |title=The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. |journal=Arch. Dermatol. Res. |volume=290 |issue= 8 |pages= 441–5 |year= 1998 |pmid= 9763307 |doi=
*cite journal | author=Roberts AG, Puy H, Dailey TA, "et al." |title=Molecular characterization of homozygous variegate porphyria. |journal=Hum. Mol. Genet. |volume=7 |issue= 12 |pages= 1921–5 |year= 1998 |pmid= 9811936 |doi=
*cite journal | author=Frank J, McGrath JA, Poh-Fitzpatrick MB, "et al." |title=Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. |journal=Clin. Exp. Dermatol. |volume=24 |issue= 4 |pages= 296–301 |year= 1999 |pmid= 10457135 |doi=
*cite journal | author=Whatley SD, Puy H, Morgan RR, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 984–94 |year= 2000 |pmid= 10486317 |doi=
*cite journal | author=Suzuki Y, Ishihara D, Sasaki M, "et al." |title=Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries. |journal=Genomics |volume=64 |issue= 3 |pages= 286–97 |year= 2000 |pmid= 10756096 |doi= 10.1006/geno.2000.6076
*cite journal | author=Corrigall AV, Hift RJ, Davids LM, "et al." |title=Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. |journal=Mol. Genet. Metab. |volume=69 |issue= 4 |pages= 323–30 |year= 2000 |pmid= 10870850 |doi= 10.1006/mgme.2000.2975
*cite journal | author=Kauppinen R, Timonen K, von und zu Fraunberg M, "et al." |title=Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. |journal=J. Invest. Dermatol. |volume=116 |issue= 4 |pages= 610–3 |year= 2001 |pmid= 11286631 |doi= 10.1046/j.1523-1747.2001.01293.x
*cite journal | author=Palmer RA, Elder GH, Barrett DF, Keohane SG |title=Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene. |journal=Br. J. Dermatol. |volume=144 |issue= 4 |pages= 866–9 |year= 2001 |pmid= 11298551 |doi=
*cite journal | author=Corrigall AV, Hift RJ, Davids LM, "et al." |title=Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. |journal=Mol. Genet. Metab. |volume=73 |issue= 1 |pages= 91–6 |year= 2001 |pmid= 11350188 |doi= 10.1006/mgme.2001.3163
*cite journal | author=Donnelly JG, Detombe S, Hindmarsh JT |title=Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations. |journal=Ann. Clin. Lab. Sci. |volume=32 |issue= 2 |pages= 107–13 |year= 2002 |pmid= 12017191 |doi=

External links

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