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Aliases for PPOX Gene

Aliases for PPOX Gene

  • Protoporphyrinogen Oxidase 2 3 5
  • PPO 3 4
  • Variegate Porphyria 2
  • EC 4
  • V290M 3
  • VP 3

External Ids for PPOX Gene

Previous HGNC Symbols for PPOX Gene

  • VP

Previous GeneCards Identifiers for PPOX Gene

  • GC01P158847
  • GC01P156868
  • GC01P157914
  • GC01P158352
  • GC01P157949
  • GC01P159402
  • GC01P161136
  • GC01P132493

Summaries for PPOX Gene

Entrez Gene Summary for PPOX Gene

  • This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPOX Gene

PPOX (Protoporphyrinogen Oxidase) is a Protein Coding gene. Diseases associated with PPOX include Porphyria Variegata and Diabetes Insipidus, Neurohypophyseal. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. GO annotations related to this gene include oxidoreductase activity and oxygen-dependent protoporphyrinogen oxidase activity.

UniProtKB/Swiss-Prot for PPOX Gene

  • Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.

Gene Wiki entry for PPOX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPOX Gene

Genomics for PPOX Gene

Regulatory Elements for PPOX Gene

Enhancers for PPOX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PPOX on UCSC Golden Path with GeneCards custom track

Promoters for PPOX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for PPOX Gene

161,165,728 bp from pter
161,178,277 bp from pter
12,550 bases
Plus strand

Genomic View for PPOX Gene

Genes around PPOX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPOX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPOX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPOX Gene

Proteins for PPOX Gene

  • Protein details for PPOX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protoporphyrinogen oxidase
    Protein Accession:
    Secondary Accessions:
    • D3DVG0
    • Q5VTW8

    Protein attributes for PPOX Gene

    477 amino acids
    Molecular mass:
    50765 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer. Homodimer.

    Three dimensional structures from OCA and Proteopedia for PPOX Gene

neXtProt entry for PPOX Gene

Post-translational modifications for PPOX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPOX Gene

Domains & Families for PPOX Gene

Protein Domains for PPOX Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protoporphyrinogen oxidase family.
  • Belongs to the protoporphyrinogen oxidase family.
genes like me logo Genes that share domains with PPOX: view

No data available for Gene Families for PPOX Gene

Function for PPOX Gene

Molecular function for PPOX Gene

GENATLAS Biochemistry:
protoporphyrinogen oxidase,catalyzing protoporphyrin formation,seventh step of porphyrin biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
Protoporphyrinogen-IX + 3 O(2) = protoporphyrin-IX + 3 H(2)O(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.

Enzyme Numbers (IUBMB) for PPOX Gene

Gene Ontology (GO) - Molecular Function for PPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004729 oxygen-dependent protoporphyrinogen oxidase activity TAS --
GO:0050660 flavin adenine dinucleotide binding TAS 7713909
genes like me logo Genes that share ontologies with PPOX: view
genes like me logo Genes that share phenotypes with PPOX: view

Human Phenotype Ontology for PPOX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PPOX Gene

miRTarBase miRNAs that target PPOX

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PPOX Gene

Localization for PPOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPOX Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Subcellular locations from

Jensen Localization Image for PPOX Gene COMPARTMENTS Subcellular localization image for PPOX gene
Compartment Confidence
mitochondrion 5
cytosol 3
chloroplast 2
extracellular 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0031304 intrinsic component of mitochondrial inner membrane IEA,ISS --
GO:0031305 integral component of mitochondrial inner membrane IEA --
GO:0031966 mitochondrial membrane IMP 7713909
genes like me logo Genes that share ontologies with PPOX: view

Pathways & Interactions for PPOX Gene

genes like me logo Genes that share pathways with PPOX: view

Pathways by source for PPOX Gene

UniProtKB/Swiss-Prot P50336-PPOX_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrin-IX from protoporphyrinogen-IX: step 1/1.

Gene Ontology (GO) - Biological Process for PPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA,IDA 7713909
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process IEA,TAS --
GO:0042493 response to drug IEA --
GO:0046501 protoporphyrinogen IX metabolic process IEA --
genes like me logo Genes that share ontologies with PPOX: view

No data available for SIGNOR curated interactions for PPOX Gene

Drugs & Compounds for PPOX Gene

(11) Drugs for PPOX Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
protoporphyrin ix Experimental Pharma 6
heme Pharma Agonist 0

(15) Additional Compounds for PPOX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
  • Formyl coenzyme A
Protoporphyrinogen IX
  • 5,10,15,20,22,24-Hexahydro protoporphyrin IX deriv.
  • 7,12-Diethenyl-3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,18-dipropanoate
  • 7,12-Diethenyl-3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,18-dipropanoic acid
  • 7,12-Diethenyl-5,10,15,20,22,24-hexahydro-3,8,13,17-tetramethyl-21h,23h-porphine-2,18-dipropanoate
  • 7,12-Diethenyl-5,10,15,20,22,24-hexahydro-3,8,13,17-tetramethyl-21h,23h-porphine-2,18-dipropanoic acid
genes like me logo Genes that share compounds with PPOX: view

Transcripts for PPOX Gene

Unigene Clusters for PPOX Gene

Protoporphyrinogen oxidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPOX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - -
SP3: -
SP5: - - - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - -
SP8: -
SP9: - - - -
SP11: -
SP12: - -

ExUns: 15 ^ 16a · 16b

Relevant External Links for PPOX Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PPOX Gene

mRNA expression in normal human tissues for PPOX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPOX Gene

This gene is overexpressed in Nasal epithelium (62.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPOX Gene

Protein tissue co-expression partners for PPOX Gene

NURSA nuclear receptor signaling pathways regulating expression of PPOX Gene:


SOURCE GeneReport for Unigene cluster for PPOX Gene:


mRNA Expression by UniProt/SwissProt for PPOX Gene:

Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with PPOX: view

Primer Products

No data available for mRNA differential expression in normal tissues for PPOX Gene

Orthologs for PPOX Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPOX Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PPOX 34
  • 89.45 (n)
  • 91.61 (a)
  • 92 (a)
(Canis familiaris)
Mammalia PPOX 34
  • 88.33 (n)
  • 89.31 (a)
  • 90 (a)
(Mus musculus)
Mammalia Ppox 34
  • 85.53 (n)
  • 88.68 (a)
Ppox 16
Ppox 35
  • 89 (a)
(Pan troglodytes)
Mammalia PPOX 34
  • 99.72 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Ppox 34
  • 85.26 (n)
  • 87.63 (a)
(Monodelphis domestica)
Mammalia PPOX 35
  • 79 (a)
(Anolis carolinensis)
Reptilia PPOX 35
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ppox 34
  • 56 (n)
  • 51.48 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24954 34
(Danio rerio)
Actinopterygii ppox 34
  • 56.31 (n)
  • 54.47 (a)
ppox 35
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta protoporphyrinogen-oxidase 36
  • 36 (a)
Ppox 34
  • 44.93 (n)
  • 38.95 (a)
Ppox 35
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003704 34
  • 47.84 (n)
  • 40.88 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR021W 34
  • 39.94 (n)
  • 28.88 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11616g 34
  • 41.16 (n)
  • 31.15 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM14 34
  • 40.71 (n)
  • 27.98 (a)
HEM14 35
  • 22 (a)
HEM14 37
thale cress
(Arabidopsis thaliana)
eudicotyledons PPOX 34
  • 43.34 (n)
  • 32.56 (a)
(Oryza sativa)
Liliopsida Os01g0286600 34
  • 42.22 (n)
  • 32.41 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09113 34
  • 42.04 (n)
  • 31.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem14 34
  • 41.99 (n)
  • 34.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
CSA.6925 35
  • 34 (a)
Species where no ortholog for PPOX was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPOX Gene

Gene Tree for PPOX (if available)
Gene Tree for PPOX (if available)

Paralogs for PPOX Gene

No data available for Paralogs for PPOX Gene

Variants for PPOX Gene

Sequence variations from dbSNP and Humsavar for PPOX Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121918324 Variegate porphyria (VP) 161,167,187(+) GACCT(C/T)GGGGA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_003687 Variegate porphyria (VP)
rs121918325 Variegate porphyria (VP) 161,168,462(+) TCTGC(C/T)GTGGA intron-variant, nc-transcript-variant, reference, missense
rs121918323 Variegate porphyria (VP) 161,169,070(+) GTGGA(C/G)GTCTA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs36013429 - 161,169,948(-) GGGCA(C/T)GAGCC intron-variant, reference, missense

Variation tolerance for PPOX Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPOX Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPOX Gene

Disorders for PPOX Gene

MalaCards: The human disease database

(10) MalaCards diseases for PPOX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria variegata
  • variegate porphyria
diabetes insipidus, neurohypophyseal
  • neurohypophyseal diabetes insipidus
  • disorder of porphyrin and hem metabolism
porphyria, acute intermittent
  • porphyria, acute intermittent, nonerythroid variant
protoporphyria, erythropoietic, autosomal recessive
  • protoporphyria, erythropoietic
- elite association - COSMIC cancer census association via MalaCards
Search PPOX in MalaCards View complete list of genes associated with diseases


  • Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. {ECO:0000269 PubMed:10486317, ECO:0000269 PubMed:10870850, ECO:0000269 PubMed:11074242, ECO:0000269 PubMed:11102990, ECO:0000269 PubMed:11286631, ECO:0000269 PubMed:11348478, ECO:0000269 PubMed:11350188, ECO:0000269 PubMed:11474578, ECO:0000269 PubMed:12380696, ECO:0000269 PubMed:12655566, ECO:0000269 PubMed:12859407, ECO:0000269 PubMed:14669009, ECO:0000269 PubMed:16433813, ECO:0000269 PubMed:16922948, ECO:0000269 PubMed:16947091, ECO:0000269 PubMed:18350656, ECO:0000269 PubMed:18570668, ECO:0000269 PubMed:19320019, ECO:0000269 PubMed:23430901, ECO:0000269 PubMed:24073655, ECO:0000269 PubMed:8673113, ECO:0000269 PubMed:8817334, ECO:0000269 PubMed:8852667, ECO:0000269 PubMed:9541112, ECO:0000269 PubMed:9763307, ECO:0000269 PubMed:9811936}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations leading to severe PPOX deficiency cause the rare homozygous variant form of VP. Missense mutations that preserve 10%-25% of wild-type activity may not cause clinically overt VP in heterozygotes (PubMed:9811936). Mutations with intermediate effect on catalytic activity may cause VP, but with a low clinical penetrance (PubMed:10486317). {ECO:0000269 PubMed:10486317, ECO:0000269 PubMed:9811936}.

Relevant External Links for PPOX

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PPOX: view

No data available for Genatlas for PPOX Gene

Publications for PPOX Gene

  1. Mitochondrial targeting of human protoporphyrinogen oxidase. (PMID: 16621625) Davids L.M. … Meissner P.N. (Cell Biol. Int. 2006) 3 4 22 65
  2. Swiss patients with variegate porphyria have unique mutations. (PMID: 16947091) Schneider-Yin X. … Minder E.I. (Swiss Med Wkly 2006) 3 4 22 65
  3. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. (PMID: 14669009) Gouya L. … Deybach J.-C. (Hum. Genet. 2004) 3 4 22 65
  4. Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases. (PMID: 12922165) Maneli M.H. … Meissner P.N. (Biochim. Biophys. Acta 2003) 3 4 22 65
  5. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. (PMID: 11286631) Kauppinen R. … Mustajoki P. (J. Invest. Dermatol. 2001) 3 4 22 65

Products for PPOX Gene

Sources for PPOX Gene

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