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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PPOX Gene

protein-coding   GIFtS: 64
GCID: GC01P161136

Protoporphyrinogen Oxidase

(Previous name: variegate porphyria)
(Previous symbol: VP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protoporphyrinogen Oxidase1 2
VP1 2
PPO2 3
Variegate Porphyria1
V290M2
EC 1.3.3.43

External Ids:    HGNC: 92801   Entrez Gene: 54982   Ensembl: ENSG000001432247   OMIM: 6009235   UniProtKB: P503363   

Export aliases for PPOX gene to outside databases

Previous GC identifers: GC01P158847 GC01P156868 GC01P157914 GC01P158352 GC01P157949 GC01P159402 GC01P132493


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 porphyria, and among its related super-pathways are Heme biosynthesis and Metabolic pathways. GO annotations related to this gene include oxygen-dependent protoporphyrinogen oxidase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
Function: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX

Gene Wiki entry for PPOX Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PPOX gene promoter:
         CREB   p53   AP-1   deltaCREB   ATF-2   c-Jun   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPOX promoter sequence
   Search SABiosciences Chromatin IP Primers for PPOX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PPOX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q22

PPOX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPOX gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P161136:  view genomic region     (about GC identifiers)

Start:
161,136,181 bp from pter      End:
161,147,803 bp from pter
Size:
11,623 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336 (See protein sequence)
Recommended Name: Protoporphyrinogen oxidase  
Size: 477 amino acids; 50765 Da
Cofactor: Binds 1 FAD per dimer
Subunit: Homodimer
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side (By
similarity)
3 PDB 3D structures from and Proteopedia for PPOX:
3NKS (3D)        4IVM (3D)        4IVO (3D)    
Secondary accessions: D3DVG0 Q5VTW8

Explore the universe of human proteins at neXtProt for PPOX: NX_P50336

Explore proteomics data for PPOX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50336

  • PPOX Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PPOX Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000300.1  NP_001116236.1  

    ENSEMBL proteins: 
     ENSP00000343943   ENSP00000356978   ENSP00000439613   ENSP00000444216   ENSP00000443769  
     ENSP00000439544   ENSP00000438136   ENSP00000396841  
    Reactome Protein details: P50336
    Human Recombinant Protein Products for PPOX: 
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    Novus Biologicals PPOX Proteins
    Novus Biologicals PPOX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PPOX 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005758mitochondrial intermembrane space TAS--
    GO:0031304intrinsic to mitochondrial inner membrane ISS--
    GO:0031305integral to mitochondrial inner membrane IEA--
    GO:0031966mitochondrial membrane IMP7713909

    PPOX for ontologies           About GeneDecksing



    PPOX Antibody Products: 
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    Cloud-Clone Corp. CLIAs for PPOX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR027418 Protoporphyrinogen_oxidase_C
     IPR002937 Amino_oxidase
     IPR016040 NAD(P)-bd_dom
     IPR004572 Protoporphyrinogen_oxidase

    Graphical View of Domain Structure for InterPro Entry P50336

    ProtoNet protein and cluster: P50336

    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
    Similarity: Belongs to the protoporphyrinogen oxidase family


    PPOX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPOX_HUMAN, P50336
    Function: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX
    Catalytic activity: Protoporphyrinogen-IX + 3 O(2) = protoporphyrin-IX + 3 H(2)O(2)

         Genatlas biochemistry entry for PPOX:
    protoporphyrinogen oxidase,catalyzing protoporphyrin formation,seventh step of porphyrin biosynthesis

         Enzyme Number (IUBMB): EC 1.3.3.41

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004729oxygen-dependent protoporphyrinogen oxidase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0050660flavin adenine dinucleotide binding TAS7713909
         
    PPOX for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PPOX:
     Decreased POU5F1-GFP protein e  Small cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PPOX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PPOX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPOX 
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    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PPOX About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Heme Biosynthesis
    Heme Biosynthesis0.82
    Metabolism of porphyrins0.69
    Heme biosynthesis0.82
    heme biosynthesis from uroporphyrinogen-III I0.43
    superpathway of heme biosynthesis from glycine0.78
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for PPOX
        Heme Biosynthesis
    heme biosynthesis from uroporphyrinogen-III I
    superpathway of heme biosynthesis from glycine

    3        Reactome Pathways for PPOX
        Metabolism of porphyrins
    Heme biosynthesis
    Metabolism


    2         Kegg Pathways  (Kegg details for PPOX):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrin-IX from
    protoporphyrinogen-IX: step 1/1


    PPOX for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PPOX

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/19 Interacting proteins for PPOX (P503362, 3 ENSP000003439434) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    IMMTQ168912, 3MINT-63810 I2D: score=5 
    HAP1P542572, 3MINT-63809 I2D: score=4 
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    FECHP228303, ENSP000003723264I2D: score=1 STRING: ENSP00000372326
    ASF1AQ9Y2943I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process IDA7713909
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0042493response to drug IEA--

    PPOX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PPOX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPOX

    8 HMDB Compounds for PPOX    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--
    Protoporphyrin IX3,3'-(3,7,12,17-tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate (see all 11)553-12-8--
    Protoporphyrinogen IX5,10,15,20,22,24-hexahydro protoporphyrin IX deriv. (see all 8)7412-77-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/18 Novoseek inferred chemical compound relationships for PPOX gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protoporphyrinogen 99.3 237 8621563 (5), 9784236 (4), 1939451 (4), 8771201 (3) (see all 99)
    acifluorfen 94.1 14 7697001 (2), 15815918 (2), 7713909 (1), 9784236 (1) (see all 6)
    protoporphyrin ix 85.6 17 7682572 (2), 8621563 (1), 8771201 (1), 11156608 (1) (see all 12)
    hydroxymethylbilane 79.8 5 14669009 (1), 12699245 (1)
    porphobilinogen 78.2 5 19087719 (1), 8340112 (1), 11800145 (1)
    uroporphyrinogen-iii 77.9 7 17364814 (2), 19289130 (1), 15660919 (1)
    haem 76.5 14 15057273 (2), 2189794 (1), 12859407 (1), 11350188 (1) (see all 9)
    5-aminolevulinic acid 72.6 7 17725098 (1), 19289130 (1), 10432190 (1), 19389274 (1) (see all 5)
    porphyrin 72.1 3 2317449 (1), 14976149 (1), 16039600 (1)
    diphenyl ether 69.7 7 8621563 (2), 7922145 (2), 7697001 (1), 9784236 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about PPOX

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PPOX gene (2 alternative transcripts): 
    NM_000309.3  NM_001122764.1  

    Unigene Cluster for PPOX:

    Protoporphyrinogen oxidase
    Hs.517373  [show with all ESTs]
    Unigene Representative Sequence: BM450121
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000352210(uc001fyg.2) ENST00000367999(uc001fyj.2 uc010pkg.1)
    ENST00000495567 ENST00000497522 ENST00000479246 ENST00000470607 ENST00000539753
    ENST00000544598 ENST00000495483(uc001fyi.2 uc010pkh.1) ENST00000468968
    ENST00000535223 ENST00000490768 ENST00000462866 ENST00000494216 ENST00000462977
    ENST00000460611 ENST00000537523 ENST00000541818
    miRNA
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    Additional mRNA sequence: 

    AK298912.1 AK302298.1 BC002357.2 D38537.1 U26446.1 

    24/25 DOTS entries (see all 25):

    DT.100657692  DT.441155  DT.100867038  DT.100846935  DT.100871716  DT.95376135  DT.100026114  DT.102832851 
    DT.121390966  DT.97842095  DT.97842096  DT.100657691  DT.100709155  DT.121390976  DT.121391023  DT.121391127 
    DT.86854951  DT.91741656  DT.91741661  DT.91884791  DT.95376129  DT.97842097  DT.100682724  DT.102832849 

    24/146 AceView cDNA sequences (see all 146):

    CD365159 CD171898 AW340283 CR606372 CR625269 BM677610 CR609680 CA431400 
    CR611657 BU193128 CR623976 CR604029 CB116864 AI357308 CA415890 CR594122 
    BG574796 CA426630 BU168561 CR615446 BI820856 CR613738 BC002357 BQ182270 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for PPOX (see all 13)    About this scheme

    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:                                                  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -         

    ExUns: 15 ^ 16a · 16b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for PPOX

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PPOX expression in normal human tissues (normalized intensities)      PPOX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATAAAAA
    PPOX Expression
    About this image


    PPOX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Epithelium (Respiratory System)    fully expand to see all 3 entries
             bronchial epithelia   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Bone (Muscoskeletal System)
             bone marrow   
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   

    See PPOX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PPOX

    SOURCE GeneReport for Unigene cluster: Hs.517373

    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
    Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

        SABiosciences Custom PCR Arrays for PPOX
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PPOX gene from 8/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppox1 , 5 protoporphyrinogen oxidase1, 5 85.53(n)1
    88.68(a)1
      1 (79.30 cM)5
    190441  NM_008911.21  NP_032937.11 
     1712759905 
    lizard
    (Anolis carolinensis)
    Reptilia PPOX6
    Uncharacterized protein
    52(a)
    1 ↔ 1
    GL343781.1(55211-75686)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.249542 Xenopus laevis transcribed sequence with weak similarity more 73.29(n)    BQ732637.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppox1 protoporphyrinogen oxidase 55.77(n)
    53.5(a)
      664750  NM_001039979.1  NP_001035068.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta protoporphyrinogen-oxidase3
    Ppox1
    protoporphyrinogen oxidase3
    Protoporphyrinogen oxidase1
    36(a)3
    45.15(n)1
    39.61(a)1
      96A143
    429391  NM_143021.31  NP_651278.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM14(YER014W)4
    HEM141
    Protoporphyrinogen oxidase, a mitochondrial enzyme more4
    Hem14p1
    40.19(n)1
    26.62(a)1
      5(182600-184219)4
    8567331, 4  NP_010930.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PPOX1 protoporphyrinogen oxidase 42.69(n)
    31.51(a)
      827991  NM_116399.3  NP_192078.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02866001 hypothetical protein 42.61(n)
    32.64(a)
      4327918  NM_001049312.1  NP_001042777.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/210 SNPs in PPOX are shown (see all 210)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0036874
    Variegate porphyria (VP)4--see VAR_0036872 R C mis40--------
    VAR_0036894
    Variegate porphyria (VP)4--see VAR_0036892 G R mis40--------
    VAR_0036864
    Variegate porphyria (VP)4--see VAR_0036862 R W mis40--------
    rs412700251,2
    Cpathogenic1167634508(+) CTGCCA/G/TTGGAG 4 H R mis12NA 4
    rs127357231,2,4
    C,F,Hpathogenic1167635188(+) CCAGCC/GGGTCT 4 P R mis1 ese310Minor allele frequency- G:0.01NA NS EA EU 6087
    rs289366761,2
    Cpathogenic1167636512(+) GTATGA/CCTCAG 4 D A mis10--------
    VAR_0036884
    ----see VAR_0036882 R C mis40--------
    rs1880151891,2
    --161139195(+) CTTAGA/GGATAG 2 -- int10--------
    rs1386093951,2
    --161139203(+) TAGGGA/GAAAGA 2 -- int10--------
    rs1402260261,2
    --161139277(+) CACAGA/GGGAAT 2 -- int10--------

    HapMap Linkage Disequilibrium report for PPOX (161136181 - 161147803 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PPOX: --

    Human Gene Mutation Database (HGMD): PPOX
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PPOX
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600923   
    OMIM disorders: 176200  
    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for PPOX:    About MalaCards
    variegate porphyria    porphyria    acute porphyria    acute hepatic porphyria
    erythropoietic protoporphyria    hypertrichosis    hereditary coproporphyria    porphyria cutanea tarda
    acute intermittent porphyria    metabolic disorders    skin disease    retinoblastoma
    mental retardation    glioblastoma    tuberculosis    hepatitis
    hypertension

    5 diseases from the University of Copenhagen DISEASES database for PPOX:
    Variegate porphyria     Acute intermittent porphyria     Hereditary coproporphyria     Erythropoietic protoporphyria
    Porphyria cutanea tarda

    PPOX for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for PPOX gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphyria variegate 98.9 98 19389274 (3), 9074790 (2), 9811936 (2), 9778454 (2) (see all 60)
    porphyria hepatic 90.3 14 9738863 (1), 7586575 (1), 10343202 (1), 9763307 (1) (see all 8)
    porphyria 88.1 10 16947091 (1), 14669009 (1), 19284797 (1), 8340112 (1) (see all 6)
    porphyria acute intermittent 85.9 8 18570668 (1), 12899439 (1), 14669009 (1), 19460837 (1) (see all 6)
    coproporphyria hereditary 79.1 2 14669009 (1)
    protoporphyria erythropoietic 60.4 1 12699245 (1)
    porphyria cutanea tarda 42 1 12699245 (1)
    enzyme deficiency 37.6 1 8340112 (1)
    metabolic disorder 16.6 2 11202052 (1), 12357337 (1)
    skin lesion 13.9 1 8634714 (1)

    Genetic Association Database (GAD): PPOX
    Human Genome Epidemiology (HuGE) Navigator: PPOX (12 documents)

    Export disorders for PPOX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PPOX gene, integrated from 9 sources (see all 132):
    (articles sorted by number of sources associating them with PPOX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. (PubMed id 7713909)1, 2, 9 Nishimura K.... Inokuchi H. (1995)
    2. The genetic basis of 'Scarsdale Gourmet Diet' variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. (PubMed id 9763307)1, 2, 9 Frank J.... Christiano A.M. (1998)
    3. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. (PubMed id 8806618)1, 2, 9 Puy H.... Deybach J.-C. (1996)
    4. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. (PubMed id 8575762)1, 3, 9 Taketani S....Inokuchi H. (1995)
    5. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. (PubMed id 8852667)1, 2, 9 Deybach J.-C.... Nordmann Y. (1996)
    6. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. (PubMed id 10457135)1, 3, 9 Frank J....Christiano A.M. (1999)
    7. Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme. (PubMed id 8771201)1, 2, 9 Dailey T.A. and Dailey H.A. (1996)
    8. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. (PubMed id 8673113)1, 2, 9 Meissner P.N.... Dailey H.A. (1996)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5498 HGNC: 9280 AceView: PPOX Ensembl:ENSG00000143224 euGenes: HUgn5498
    ECgene: PPOX Kegg: 5498 H-InvDB: PPOX

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PPOX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PPOX
    Wikipedia http://en.wikipedia.org/wiki/Protoporphyrinogen_oxidase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PPOX gene:
    Search GeneIP for patents involving PPOX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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