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. Alternativ... See more...

Aliases for PPOX Gene

Aliases for PPOX Gene

  • Protoporphyrinogen Oxidase 2 3 4 5
  • PPO 2 3 4
  • Variegate Porphyria 2
  • EC 1.3.3.4 4
  • V290M 3
  • PPOX 5
  • 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 Variegate Porphyria and Constipation. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxygen-dependent protoporphyrinogen oxidase activity. An important paralog of this gene is MAOB.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPOX Gene

Genomics for PPOX Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPOX Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPOX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPOX

Top Transcription factor binding sites by QIAGEN in the PPOX gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • GATA-1
  • p53

Genomic Locations for PPOX Gene

Genomic Locations for PPOX Gene
chr1:161,165,824-161,178,277
(GRCh38/hg38)
Size:
12,454 bases
Orientation:
Plus strand
chr1:161,136,181-161,147,803
(GRCh37/hg19)
Size:
11,623 bases
Orientation:
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:
    P50336-PPOX_HUMAN
    Recommended name:
    Protoporphyrinogen oxidase
    Protein Accession:
    P50336
    Secondary Accessions:
    • D3DVG0
    • Q5VTW8

    Protein attributes for PPOX Gene

    Size:
    477 amino acids
    Molecular mass:
    50765 Da
    Cofactor:
    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

Gene Families for PPOX Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PPOX Gene

Suggested Antigen Peptide Sequences for PPOX Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58925, moderately similar to Protoporphyrinogen oxidase (EC 1.3.3.4) (B4DQQ7_HUMAN)
  • cDNA FLJ57666, highly similar to Protoporphyrinogen oxidase (EC 1.3.3.4) (B4DY76_HUMAN)
  • Protoporphyrinogen oxidase, isoform CRA_d (D3DVG2_HUMAN)
  • Protoporphyrinogen oxidase (PPOX_HUMAN)
  • Mutant protoporphyrinogen oxidase (Q96RP0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50336

UniProtKB/Swiss-Prot:

PPOX_HUMAN :
  • Belongs to the protoporphyrinogen/coproporphyrinogen oxidase family. Protoporphyrinogen oxidase subfamily.
Family:
  • Belongs to the protoporphyrinogen/coproporphyrinogen oxidase family. Protoporphyrinogen oxidase subfamily.
genes like me logo Genes that share domains with PPOX: view

Function for PPOX Gene

Molecular function for PPOX Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3 O2 + protoporphyrinogen IX = 3 H2O2 + protoporphyrin IX; Xref=Rhea:RHEA:25576, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57306, ChEBI:CHEBI:57307; EC=1.3.3.4; Evidence={ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411};.
GENATLAS Biochemistry:
protoporphyrinogen oxidase,catalyzing protoporphyrin formation,seventh step of porphyrin biosynthesis

Enzyme Numbers (IUBMB) for PPOX Gene

Phenotypes From GWAS Catalog 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 IEA,IDA 7713909
GO:0016491 oxidoreductase activity IEA,IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPOX

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPOX gene
Compartment Confidence
mitochondrion 5
extracellular 3
cytosol 3
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0016020 membrane IEA --
GO:0031304 intrinsic component of mitochondrial inner membrane IBA,ISS --
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 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

(13) Drugs for PPOX Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
givosiran Approved, Investigational Pharma 0
FAD Approved Pharma 0
Hydrogen peroxide Approved, Vet_approved Pharma 115
Iron Approved, Experimental Pharma 1560
Oxygen Approved, Vet_approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
13131-49-2
Protoporphyrinogen IX
  • 7,12-Diethenyl-3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,18-dipropanoic acid
  • 7,12-Diethenyl-3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,18-dipropanoate
  • 5,10,15,20,22,24-hexahydro Protoporphyrin IX deriv.
  • 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
7412-77-3
genes like me logo Genes that share compounds with PPOX: view

Transcripts for PPOX Gene

mRNA/cDNA for PPOX Gene

10 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPOX

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: - - - -
SP2:
SP3: -
SP4:
SP5: - - - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - -
SP8: -
SP9: - - - -
SP10:
SP11: -
SP12: - -
SP13:

ExUns: 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PPOX Gene

GeneLoc Exon Structure for
PPOX

Expression for PPOX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PPOX Gene



Protein tissue co-expression partners for PPOX Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPOX

SOURCE GeneReport for Unigene cluster for PPOX Gene:

Hs.517373

mRNA Expression by UniProt/SwissProt for PPOX Gene:

P50336-PPOX_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for PPOX Gene

  • Lung(4.4)
  • Nervous system(3.3)
  • Skin(2.5)
  • Liver(2.3)
  • Blood(2.1)
  • Kidney(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPOX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • gallbladder
  • intestine
  • large intestine
  • liver
  • stomach
Pelvis:
  • rectum
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PPOX: view

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
Chimpanzee
(Pan troglodytes)
Mammalia PPOX 30 31
  • 99.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPOX 30 31
  • 89.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPOX 30 31
  • 88.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppox 30 17 31
  • 85.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppox 30
  • 85.26 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPOX 31
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPOX 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppox 30
  • 56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24954 30
Zebrafish
(Danio rerio)
Actinopterygii ppox 30 31
  • 56.31 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003704 30
  • 47.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ppox 30 31
  • 44.93 (n)
OneToOne
protoporphyrinogen-oxidase 32
  • 36 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11616g 30
  • 41.16 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM14 30 31 33 33
  • 40.71 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAR021W 30
  • 39.94 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PPOX 30
  • 43.34 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0286600 30
  • 42.22 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU09113 30
  • 42.04 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem14 30
  • 41.99 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
CSA.6925 31
  • 34 (a)
OneToMany
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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for PPOX (if available)
TreeFam:
Gene Tree for PPOX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPOX: view image

Paralogs for PPOX Gene

Paralogs for PPOX Gene

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

Variants for PPOX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPOX Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
643192 Pathogenic: not provided 161,170,510(+) CAG/C FRAMESHIFT_VARIANT,INTRON_VARIANT
645203 Uncertain Significance: not provided 161,170,950(+) G/C SPLICE_DONOR_VARIANT
648970 Uncertain Significance: not provided 161,169,036(+) G/T MISSENSE_VARIANT
649718 Pathogenic: not provided 161,166,925(+) C/A NONSENSE,FIVE_PRIME_UTR_VARIANT
651549 Pathogenic: not provided 161,168,525(+) C/T NONSENSE

Additional dbSNP identifiers (rs#s) for PPOX Gene

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)

Additional Variant Information for PPOX Gene

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

SNP Genotyping and Copy Number Assay Products

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

(15) MalaCards diseases for PPOX Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
variegate porphyria
  • vp
constipation
migraine with or without aura 1
  • migraine with or without aura, susceptibility to, 1
porphyria
  • disorder of porphyrin and hem metabolism
acute porphyria
  • hepatic porphyria
- elite association - COSMIC cancer census association via MalaCards
Search PPOX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPOX_HUMAN
  • 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:12922165, ECO:0000269 PubMed:14669009, ECO:0000269 PubMed:16433813, ECO:0000269 PubMed:16621625, ECO:0000269 PubMed:16922948, ECO:0000269 PubMed:16947091, ECO:0000269 PubMed:18350656, ECO:0000269 PubMed:18570668, ECO:0000269 PubMed:19320019, ECO:0000269 PubMed:21048046, ECO:0000269 PubMed:23430901, ECO:0000269 PubMed:23467411, 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}.

Additional Disease Information for PPOX

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

No data available for Genatlas for PPOX Gene

Publications for PPOX Gene

  1. Swiss patients with variegate porphyria have unique mutations. (PMID: 16947091) Schneider-Yin X … Minder EI (Swiss medical weekly 2006) 3 4 23
  2. Mitochondrial targeting of human protoporphyrinogen oxidase. (PMID: 16621625) Davids LM … Meissner PN (Cell biology international 2006) 3 4 23
  3. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. (PMID: 14669009) Gouya L … Deybach JC (Human genetics 2004) 3 4 23
  4. Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases. (PMID: 12922165) Maneli MH … Meissner PN (Biochimica et biophysica acta 2003) 3 4 23
  5. Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. (PMID: 11350188) Corrigall AV … Meissner PN (Molecular genetics and metabolism 2001) 3 4 23

Products for PPOX Gene

Sources for PPOX Gene