Property Summary

NCBI Gene PubMed Count 43
PubMed Score 291.01
PubTator Score 860.47

Knowledge Summary


No data available



  Differential Expression (12)

Disease log2 FC p
pancreatic cancer 1.100 3.9e-02
malignant mesothelioma -1.300 1.1e-05
psoriasis -1.600 7.9e-04
cutaneous lupus erythematosus -1.400 3.5e-03
osteosarcoma -3.752 1.4e-08
posterior fossa group B ependymoma 1.500 8.9e-06
group 3 medulloblastoma 1.800 5.9e-06
primitive neuroectodermal tumor 1.300 3.1e-02
tuberculosis 1.400 1.5e-06
lung cancer 1.500 3.1e-03
pancreatic carcinoma 1.100 3.9e-02
nasopharyngeal carcinoma -1.100 1.3e-05

Gene RIF (18)

25944804 GAPDH and protoporphyrinogen oxidase were shown to have higher expression in faster growing cell lines and primary tumors. Pharmacologic inhibition of GAPDH or PPOX reduced the growth of colon cancer cells in vitro
25445397 in the hepatic cancer tissue of two acute porphyria patients, somatic second-hit mutations result in nearly complete inactivation of PPOX and HMBS
23601071 Variegate porphyria is the result of decreased protoporphyrinogen oxidase activity. Diet supplementation with vitamins E and C restores PPOX gene expression in lymphocytes of variegate porphyria patients.
23467411 VP-causing mutation affect the catalytic activity of hPPO by affecting the ability of hPPO to sample the privileged conformations
23324528 findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with variegate prophyria
21910705 data deliver further confirmation that the South African and Dutch variegate porphyria families carrying mutation p.R59W shared a common ancestor.
21048046 Forty-seven variegate porphyria-causing mutations were purified by chromatography and kinetically characterized in vitro.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19656457 The mutation 1082-1083insC(1 base pair insertion at position 1082) in exon 10 of the PPOX gene was prevalent in the Swiss population.
19656455 The c.851G>T and the c.1013C>G of PPOX gene were found in two and four unrelated families respectively. 1 experienced only photosensitivity, 1 only neurological symptoms and the 2 both clinical manifestations.
19229653 sequenced 27 members of a family with variegate porphyria with a T>A transversion at the intron 6 consensus splicing site in 8 patients and 4 SNPs: c.-414A>C; IVS2+121G>C; c.1188G>A and IVS12+34C>T
18191920 GATA-1 binding sites in exon 1 constitute key regulatory elements in differential expression of PPOX in erythroid and non-erythroid cells.
16947091 Mutation in protoporphyrinogen oxidase is associated with variegate porphyria
16621625 Protoporphyrinogen oxidase targeting mechanism to the mitochondrion.
14669009 Modulation of penetrance by the wild-type allele in dominantly inherited erythrohepatic and acute hepatic porphyrias was studied using PPOX.
14535846 Information required for targeting to the mitochondria is contained within the first 250 amino acid residues of human PPOX.
12556518 This enzyme in its regular and mutagenized forms is targeted to mitochondria when transfected.
12017191 Two previously undescribed mutations were identified: PPOX1423-1426-delATCT and PPOX2272insG.

AA Sequence


Text Mined References (61)

PMID Year Title
25944804 2015 Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25445397 2015 Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
24073655 2013 Homozygous variegate porphyria presenting with developmental and language delay in childhood.
23601071 2013 Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
23467411 2013 Quantitative structural insight into human variegate porphyria disease.
23430901 2012 Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
23324528 2013 Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
21910705 2012 Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
21269460 2011 Initial characterization of the human central proteome.
21048046 2011 Structural insight into human variegate porphyria disease.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19656457 2009 Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
19656455 2009 Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.
19320019 2009 Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
19229653 2009 Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.
18570668 2008 Genetic and biochemical studies in Argentinean patients with variegate porphyria.
18350656 2007 Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
18191920 2008 GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX.
16947091 2006 Swiss patients with variegate porphyria have unique mutations.
16922948 2006 Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16621625 2006 Mitochondrial targeting of human protoporphyrinogen oxidase.
16433813 2006 A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14669009 2004 Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
14535846 2004 Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria.
12922165 2003 Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
12859407 2003 Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
12655566 2003 Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
12556518 2003 Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12380696 Variegate porphyria in Western Australian Aboriginal patients.
12357337 2002 Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
12017191 2002 Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
11474578 2001 Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
11350188 2001 Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
11348478 2001 A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
11298551 2001 Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
11286631 2001 Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.
11102990 2000 Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
11074242 2000 Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
10870850 2000 Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
10756096 2000 Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries.
10486317 1999 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.
10457135 1999 Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
9811936 1998 Molecular characterization of homozygous variegate porphyria.
9763307 1998 The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
9541112 1998 Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
9074790 1997 Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
9003509 1997 Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
8852667 1996 Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
8817334 1996 Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
8806618 1996 Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
8771201 1996 Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme.
8673113 1996 A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
8575762 1995 The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1.
8554330 1995 Cloning, sequence, and expression of mouse protoporphyrinogen oxidase.
8288631 1994 Expression of a cloned protoporphyrinogen oxidase.
7713909 1995 Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli.