PPOX Gene
protein-coding GIFtS: 61
GCID: GC01P161136
|
|
protoporphyrinogen oxidase(Previous name: variegate porphyria )
(Previous symbol: VP)
| |
Aliases
for PPOX gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Protoporphyrinogen Oxidase1 2 | | PPO1 2 3 | | VP1 2 | | Variegate Porphyria1 | | V290M2 | | EC 1.3.3.43 |
Export aliases for PPOX gene to outside databasesPrevious GC identifers: GC01P158847 GC01P156868 GC01P157914 GC01P158352 GC01P157949 GC01P159402 GC01P132493 |
Summaries
for PPOX gene(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:
This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation ofprotoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomaldominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located onthe inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have beenidentified. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336Function: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX
Gene Wiki entry for PPOX
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
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
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: 1q22PPOX Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for PPOX gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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)
1 PDB 3D structure from  and Proteopedia  for PPOX:3NKS (3D)
Secondary accessions: D3DVG0 Q5VTW8Explore the universe of human proteins at neXtProt for PPOX: NX_P50336
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P50336
PPOX Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PPOX for ontologies About GeneDecksing
PPOX Antibody Products:
Assay Products for PPOX: |
Protein
Domains /
Families
for PPOX gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PPOX for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P50336ProtoNet protein and cluster: P50336 UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336Similarity: Belongs to the protoporphyrinogen oxidase family |
Function
for PPOX gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PPOX_HUMAN, P50336Function: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IXCatalytic 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): 4 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000166 | nucleotide binding |
-- | -- | | GO:0004729 | oxygen-dependent protoporphyrinogen oxidase activity |
TAS | -- | | GO:0016491 | oxidoreductase activity |
-- | -- | | GO:0050660 | flavin adenine dinucleotide binding |
TAS | 7713909 |
PPOX for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for PPOX:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PPOX (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PPOX (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PPOX (NM_000309) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PPOX | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPOX |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPOX |
|
Pathways & Interactions
for PPOX gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | heme biosynthesis II | | | 2 | Metabolism | | | 3 | Glucuronidation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3  BioSystems Pathways for PPOX
3 
Reactome Pathways for PPOX
2 
Kegg Pathways (Kegg details for PPOX):
UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336Pathway: Porphyrin 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)
About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006778 | porphyrin-containing compound metabolic process |
TAS | -- | | GO:0006779 | porphyrin-containing compound biosynthetic process |
IDA | 7713909 | | GO:0006782 | protoporphyrinogen IX biosynthetic process |
IEA | -- | | GO:0006783 | heme biosynthetic process |
TAS | -- | | GO:0042493 | response to drug |
IEA | -- |
PPOX for ontologies About GeneDecksing
|
Drugs & Compounds
for PPOX gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for PPOX
8 HMDB Compounds for PPOX About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| FAD | 1H-Purin-6-amine flavin dinucleotide (see all 21) | 146-14-5 | -- | | Formyl-CoA | Formyl coenzyme A | 13131-49-2 | -- | | Heme | (protoporphyrinato)iron (see all 19) | 14875-96-8 | -- | | Iron | Armco iron (see all 19) | 7439-89-6 | -- | | Oxygen | Oxygen (see all 5) | 7782-44-7 | -- | | Protoporphyrin IX | 3,3'-(3,7,12,17-tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate (see all 11) | 553-12-8 | -- | | Protoporphyrinogen IX | 5,10,15,20,22,24-hexahydro protoporphyrin IX deriv. (see all 8) | 7412-77-3 | -- | | Water | Dihydrogen oxide (see all 2) | 7732-18-5 | -- |
10/18 Novoseek 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
|
Transcripts
for PPOX gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
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: BM45012118/21 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PPOX (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PPOX (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): PPOX (NM_000309) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PPOX | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPOX |
Additional cDNA 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): BU193128 CR606372 AW274980 AW296956 CA312491 AI754752 CR623976 CR611657 CR618454 BU168561 AA151248 CN484917 AL557898 CR594122 CR615446 CD171898 AW340283 CR623872 CD365159 BM677610 BU632409 CA431400 CA415890 CB116864
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
|
Expression
for PPOX gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAATAAAAA
About this image
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, P50336Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas
SABiosciences Custom PCR Arrays for PPOX
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PPOX
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PPOX | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PPOX | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PPOX | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPOX |
Orthologs
for PPOX gene
(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 8/30 species (see all 30) About this table
ENSEMBL Gene Tree for PPOX (if available)
TreeFam Gene Tree for PPOX (if available) |
Paralogs
for PPOX gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for PPOX gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PPOX (161136181 - 161147803 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PPOX: --
Human Gene Mutation Database (HGMD): PPOX
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PPOX |
|
Disorders
/ Diseases
for PPOX gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PPOX for disorders About GeneDecksing
OMIM gene information: 600923
OMIM disorders: 176200
UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
Defects in PPOX are the cause of variegate porphyria (VP) [MIM:176200]. Porphyrias are inherited defects inthe 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 cellsor in the liver. PV is the most common form of porphyria in South Africa. It is characterized by skinhyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. Highfecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markersof the disease
18  diseases for PPOX: About MalaCardsvariegate porphyria porphyria porphyria cutanea tarda porphyria variegata
erythropoietic protoporphyria acute intermittent porphyria coproporphyria iron overload
acute hepatic porphyria metabolic disorders acute porphyria hypertrichosis
skin disease retinoblastoma hepatitis glioblastoma
tuberculosis mycobacterium tuberculosis
4 diseases from the University of Copenhagen DISEASES database for PPOX:Variegate porphyria Hereditary coproporphyria Acute intermittent porphyria Erythropoietic protoporphyria 10/13 Novoseek 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
|
Publications
for PPOX gene (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 130):
(articles sorted by number of sources associating them with PPOX) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. (PubMed id 8806618)1, 2, 9 Puy H.... Deybach J.-C. (1996)
- The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. (PubMed id 8575762)1, 3, 9 Taketani S....Inokuchi H. (1995)
- Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. (PubMed id 8852667)1, 2, 9 Deybach J.-C.... Nordmann Y. (1996)
- 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)
- 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)
- 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)
- 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)
- Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria. (PubMed id 14535846)1, 9 Morgan R.R....Elder G.H. (2004)
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External Searches for PPOX gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing PPOX gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PPOX gene
(According to HUGE)
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Specialized Databases showing PPOX gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for PPOX | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PPOX | | Wikipedia | http://en.wikipedia.org/wiki/Protoporphyrinogen_oxidase |
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| 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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Products
for PPOX gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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