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CPOX Gene(Protein Coding)

Coproporphyrinogen Oxidase

GCID:
GC03M098521
GIFtS:
61
Genes Participants
UDN Logo

Aliases for CPOX Gene

Aliases for CPOX Gene

  • Coproporphyrinogen Oxidase 2 3 5
  • Coproporphyrinogenase 3 4
  • Coprogen Oxidase 3 4
  • EC 1.3.3.3 4 61
  • COX 3 4
  • CPO 3 4
  • CPX 3 4
  • Oxygen-Dependent Coproporphyrinogen-III Oxidase, Mitochondrial 3
  • Coproporphyrinogen Oxidase (Coproporphyria, Harderoporphyria) 2
  • Coproporphyria 2
  • HCP 3

External Ids for CPOX Gene

Previous HGNC Symbols for CPOX Gene

  • CPO

Previous GeneCards Identifiers for CPOX Gene

  • GC03M099619
  • GC03M099780
  • GC03M098298
  • GC03M095670
  • GC03M098239

Summaries for CPOX Gene

Entrez Gene Summary for CPOX Gene

  • The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

GeneCards Summary for CPOX Gene

CPOX (Coproporphyrinogen Oxidase) is a Protein Coding gene. Diseases associated with CPOX include Coproporphyria and Porphyria Cutanea Tarda. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and structural constituent of eye lens.

UniProtKB/Swiss-Prot for CPOX Gene

  • Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX.

Gene Wiki entry for CPOX Gene

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

Genomics for CPOX Gene

Products:

  1. Regulatory Element

Regulatory Elements for CPOX Gene

Enhancers for CPOX 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
GH03G098560 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17 +28.8 28775 8.4 HDGF PKNOX1 WRNIP1 FEZF1 YY1 CBX5 ZNF143 JUNB TSHZ1 REST CPOX OR5K2 ST3GAL6-AS1 ST3GAL6 GPR15 CLDND1 GC03M098547
GH03G098573 1.5 FANTOM5 ENCODE dbSUPER 16.4 +20.2 20220 0.9 NFIB ZNF133 FEZF1 RAD21 ZNF366 RELB IKZF2 ZNF654 ZNF362 ZNF680 CPOX CLDND1 OR5H6 OR5H2 GC03M098547
GH03G098550 1.5 FANTOM5 ENCODE dbSUPER 16 +38.7 38662 8.2 HDGF PKNOX1 CREB3L1 WRNIP1 YY1 TCF12 GATA2 JUNB TBX21 ZNF592 CPOX GPR15 DCBLD2 ST3GAL6-AS1 OR5H6 CLDND1 OR5H2 GC03M098547
GH03G098776 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -184.9 -184946 4.7 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 GATA2 FOS SP5 ZHX2 ST3GAL6 DCBLD2 ST3GAL6-AS1 CPOX PDLIM1P4 GC03P098755
GH03G098782 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -191.1 -191129 4.9 FOXA2 MLX ARID4B YY1 FOS SP5 JUNB PPARG KAT8 MIER3 ST3GAL6 DCBLD2 ST3GAL6-AS1 CPOX OR5K4 PDLIM1P4 GC03M098805 RNU6-26P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPOX on UCSC Golden Path with GeneCards custom track

Promoters for CPOX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000155352 423 1801 HDGF FOXA2 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1

Transcription factor binding sites by QIAGEN in the CPOX gene promoter:

Genomic Location for CPOX Gene

Chromosome:
3
Start:
98,521,132 bp from pter
End:
98,593,723 bp from pter
Size:
72,592 bases
Orientation:
Minus strand

Genomic View for CPOX Gene

Genes around CPOX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CPOX Gene

Proteins for CPOX Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P36551-HEM6_HUMAN
    Recommended name:
    Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
    Protein Accession:
    P36551
    Secondary Accessions:
    • A8K275
    • B4DSD5
    • Q14060
    • Q53F08
    • Q8IZ45
    • Q96AF3

    Protein attributes for CPOX Gene

    Size:
    454 amino acids
    Molecular mass:
    50152 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAA04033.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CPOX Gene

    Alternative splice isoforms for CPOX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPOX Gene

Protein Expression for CPOX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CPOX Gene

P36551:
  • KKWCDDYF
  • RRGRYVE
  • GGIFFDD
  • VFEKAGV
  • RGIGGIF
  • EDAVHFH
  • HFNYRYFE
  • RYVEFNL
  • ARWEYMH
  • WCDDYFF

Post-translational modifications for CPOX Gene

  • Ubiquitination at isoforms=2184
  • Modification sites at PhosphoSitePlus

Other Protein References for CPOX Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CPOX Gene

Protein Domains for CPOX Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CPOX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P36551

UniProtKB/Swiss-Prot:

HEM6_HUMAN :
  • Belongs to the aerobic coproporphyrinogen-III oxidase family.
Family:
  • Belongs to the aerobic coproporphyrinogen-III oxidase family.
genes like me logo Genes that share domains with CPOX: view

No data available for Gene Families for CPOX Gene

Function for CPOX Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CPOX Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Coproporphyrinogen-III + O(2) + 2 H(+) = protoporphyrinogen-IX + 2 CO(2) + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX.

Enzyme Numbers (IUBMB) for CPOX Gene

Gene Ontology (GO) - Molecular Function for CPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004109 coproporphyrinogen oxidase activity TAS --
GO:0005212 structural constituent of eye lens IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IDA 16176984
genes like me logo Genes that share ontologies with CPOX: view
genes like me logo Genes that share phenotypes with CPOX: view

Human Phenotype Ontology for CPOX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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Flow Cytometry Products

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

Localization for CPOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPOX Gene

Mitochondrion intermembrane space.

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 CPOX gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CPOX: view

Pathways & Interactions for CPOX Gene

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

Pathways by source for CPOX Gene

3 Reactome pathways for CPOX Gene

UniProtKB/Swiss-Prot P36551-HEM6_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrinogen-IX from coproporphyrinogen-III (O2 route): step 1/1.

Gene Ontology (GO) - Biological Process for CPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0010035 response to inorganic substance IEA --
GO:0010039 response to iron ion IEA --
genes like me logo Genes that share ontologies with CPOX: view

No data available for SIGNOR curated interactions for CPOX Gene

Drugs & Compounds for CPOX Gene

Products:

  1. Drug

(35) Drugs for CPOX Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Carbon dioxide Approved, Vet_approved Pharma 0
Water Approved Pharma 0
Protoporphyrin IX Experimental Pharma 9
Coproporphyrin Iii Experimental Pharma 0

(37) Additional Compounds for CPOX Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Coproporphyrinogen III
  • 3,8,13,17-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate
  • 3,8,13,17-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoic acid
  • 5,10,15,20,22,24-Hexahydro-3,8,13,17-tetramethyl-2,7,12,18-Porphinetetrapropionate
  • 5,10,15,20,22,24-Hexahydro-3,8,13,17-tetramethyl-2,7,12,18-Porphinetetrapropionic acid
  • 5,10,15,20,22,24-Hexahydro-3,8,13,17-tetramethyl-21H,23H-Porphine-2,7,12,18-tetrapropanoate
 2624-63-7
Formyl-CoA
  • Formyl coenzyme A
 13131-49-2
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
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
 7412-77-3
genes like me logo Genes that share compounds with CPOX: view

Transcripts for CPOX Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CPOX Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(135) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CPOX Gene

Coproporphyrinogen oxidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2: - -
SP3:
SP4: - -

Relevant External Links for CPOX Gene

GeneLoc Exon Structure for
CPOX
ECgene alternative splicing isoforms for
CPOX

Expression for CPOX Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPOX Gene

mRNA expression in normal human tissues for CPOX Gene
mRNA expression by BioGPS for CPOX GenemRNA expression by GTEx for CPOX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CPOX Gene

This gene is overexpressed in Bone (13.7), Peripheral blood mononuclear cells (10.0), and Fetal Liver (9.5).

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



Protein tissue co-expression partners for CPOX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPOX Gene:

CPOX

SOURCE GeneReport for Unigene cluster for CPOX Gene:

Hs.476982

Evidence on tissue expression from TISSUES for CPOX Gene

  • Liver(4.5)
  • Nervous system(4.2)
  • Blood(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • rectum
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CPOX: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CPOX Gene

Orthologs for CPOX Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CPOX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CPOX 34 35
  • 99.49 (n)
dog
(Canis familiaris)
 Mammalia CPOX 35
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CPOX 34 35
  • 87.2 (n)
rat
(Rattus norvegicus)
 Mammalia Cpox 34
  • 83.94 (n)
mouse
(Mus musculus)
 Mammalia Cpox 34 16 35
  • 83.41 (n)
oppossum
(Monodelphis domestica)
 Mammalia CPOX 35
  • 74 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CPOX 35
  • 58 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CPOX 34 35
  • 73.67 (n)
lizard
(Anolis carolinensis)
 Reptilia CPOX 35
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cpox 34
  • 69.57 (n)
zebrafish
(Danio rerio)
 Actinopterygii cpox 34 35
  • 66.76 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10575 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004749 34
  • 61.21 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Coprox 34 35
  • 60.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGR030C 34
  • 55.08 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HEM13 34 35 37
  • 54.97 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F18546g 34
  • 54.21 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons LIN2 34
  • 52.7 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.10363 34
rice
(Oryza sativa)
 Liliopsida Os04g0610800 34
  • 60.7 (n)
Os.17919 34
barley
(Hordeum vulgare)
 Liliopsida Hv.138 34
wheat
(Triticum aestivum)
 Liliopsida Ta.2884 34
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 58 (a)
 OneToOne
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes hem13 34
  • 56 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU01546 34
  • 54.85 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1210 34
Species where no ortholog for CPOX was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CPOX Gene

ENSEMBL:
Gene Tree for CPOX (if available)
TreeFam:
Gene Tree for CPOX (if available)

Paralogs for CPOX Gene

No data available for Paralogs for CPOX Gene

Variants for CPOX Gene

Sequence variations from dbSNP and Humsavar for CPOX Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121917866 Pathogenic, Hereditary coproporphyria (HCP) [MIM:121300] 98,585,622(-) GAGAA(C/T)GGCGG nc-transcript-variant, reference, missense
rs121917868 Pathogenic, Hereditary coproporphyria (HCP) [MIM:121300] 98,581,474(-) GCACA(A/G)AGTTT intron-variant, nc-transcript-variant, reference, missense
rs121917870 Pathogenic, Hereditary coproporphyria (HCP) [MIM:121300] 98,588,783(-) CTGTC(C/G/T)ATTTT nc-transcript-variant, reference, missense
rs121917874 Pathogenic, Hereditary coproporphyria (HCP) [MIM:121300] 98,588,831(-) TTGGT(C/G)GTGGA nc-transcript-variant, reference, missense
rs201826432 Hereditary coproporphyria (HCP) [MIM:121300] 98,593,101(+) CGGTC(A/G)CAGGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CPOX Gene

Variant ID Type Subtype PubMed ID
dgv293n21 CNV loss 19592680
dgv4819n100 CNV gain 25217958
nsv591065 CNV gain 21841781
nsv834775 CNV gain 17160897

Variation tolerance for CPOX Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.67; 93.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPOX Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPOX Gene

Disorders for CPOX Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
coproporphyria
  • harderoporphyria
porphyria cutanea tarda
  • porphyria, hepatoerythropoietic
porphyria variegata
  • variegate porphyria
protoporphyria, erythropoietic, autosomal recessive
  • protoporphyria, erythropoietic
porphyria
  • disorder of porphyrin and hem metabolism
- elite association - COSMIC cancer census association via MalaCards
Search CPOX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEM6_HUMAN
  • Hereditary coproporphyria (HCP) [MIM:121300]: 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. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces. {ECO:0000269 PubMed:12181641, ECO:0000269 PubMed:15896662, ECO:0000269 PubMed:16398658, ECO:0000269 PubMed:7757079, ECO:0000269 PubMed:7849704, ECO:0000269 PubMed:8012360, ECO:0000269 PubMed:8990017, ECO:0000269 PubMed:9048920, ECO:0000269 PubMed:9298818, ECO:0000269 PubMed:9888388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CPOX

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

No data available for Genatlas for CPOX Gene

Publications for CPOX Gene

  1. The association between a genetic polymorphism of coproporphyrinogen oxidase, dental mercury exposure and neurobehavioral response in humans. (PMID: 16343843) Echeverria D. … Garabedian C.E. (Neurotoxicol Teratol 2006) 3 22 46 64
  2. Structural basis of hereditary coproporphyria. (PMID: 16176984) Lee D.-S. … Raman C.S. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  3. The long, but not the short, presequence of human coproporphyrinogen oxidase is essential for its import and sorting to mitochondria. (PMID: 12862310) Susa S. … Kato T. (Tohoku J. Exp. Med. 2003) 3 4 22 64
  4. Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. (PMID: 12181641) Wiman A. … Harper P. (J. Hum. Genet. 2002) 3 4 22 64
  5. Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. (PMID: 9888388) Rosipal R. … Deybach J.-C. (Hum. Mutat. 1999) 3 4 22 64

Products for CPOX Gene

Sources for CPOX Gene

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