CPOX (coproporphyrinogen oxidase)

2012-03-01  

Identity

HGNC
LOCATION
3q11.2
LOCUSID
ALIAS
COX,CPO,CPX,HARPO,HCP

Other Information

Locus ID:

NCBI: 1371
MIM: 612732
HGNC: 2321
Ensembl: ENSG00000080819

Variants:

dbSNP: 1371
ClinVar: 1371
TCGA: ENSG00000080819
COSMIC: CPOX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080819ENST00000513674D6RER6
ENSG00000080819ENST00000647941P36551

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166190681givosiranChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
163438432006The association between a genetic polymorphism of coproporphyrinogen oxidase, dental mercury exposure and neurobehavioral response in humans.25
161769842005Structural basis of hereditary coproporphyria.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
161598912005Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.13
193396642009Cloning, expression, and biochemical properties of CPOX4, a genetic variant of coproporphyrinogen oxidase that affects susceptibility to mercury toxicity in humans.10
227659782012Modification of neurobehavioral effects of mercury by a genetic polymorphism of coproporphyrinogen oxidase in children.10
146690092004Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.9
212319292012Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.3
122084942002Towards a new T-fold protein?: the coproporphyrinogen III oxidase sequence matches many structural features from urate oxidase.2
240780842013The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.2

Citation

Dessen P

CPOX (coproporphyrinogen oxidase)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52614/cpox