HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CPOX
coproporphyrinogen oxidase
Chromosome 3 Β· 3q11.2
NCBI Gene: 1371Ensembl: ENSG00000080819.10HGNC: HGNC:2321UniProt: P36551
87PubMed Papers
22Diseases
0Drugs
40Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotoporphyrinogen IX biosynthetic processheme B biosynthetic processprotein homodimerization activityhereditary coproporphyriaharderoporphyrianeurodegenerative diseaseCPOX-related hereditary coproporphyria
✦AI Summary

CPOX (coproporphyrinogen oxidase) catalyzes the aerobic oxidative decarboxylation of coproporphyrinogen-III to protoporphyrinogen IX, representing the sixth step in heme biosynthesis [UniProt]. The enzyme functions as a mitochondrial intermembrane space protein and homodimer involved in heme B biosynthetic pathways. Biallelic CPOX mutations cause harderoporphyria, a rare porphyria characterized by coproporphyrinogen oxidase deficiency 1. Heterozygous mutations result in hereditary coproporphyria (HCP), an acute hepatic porphyria presenting with severe abdominal pain, neurovisceral manifestations, and cutaneous symptoms 2. HCP patients exhibit elevated urinary and fecal coproporphyrin excretion; genetic testing for CPOX pathogenic variants confirms diagnosis following positive biochemical screening 2. CPOX protein levels critically regulate protoporphyrin IX fluorescence in glioma cells, correlating with proliferative activity 3. The BALB.NCT-Cpox nct mouse model demonstrates that CPOX mutations cause microcytic anemia, neuromuscular dysfunction, and sex-dependent hepatic/cutaneous pathology including nonalcoholic steatohepatitis 45. Recent evidence indicates CPOX mutations impair mitochondrial steroidogenic enzyme function, causing primary adrenal insufficiency alongside classic porphyria features 1. Genome-wide association studies identify CPOX as a genetic determinant of cerebrospinal fluid Alzheimer's disease biomarker levels 6. Management of acute HCP attacks involves intravenous hemin and prophylactic therapy for recurrent episodes 2.

Sources cited
1
Hereditary coproporphyria is an acute hepatic porphyria; diagnosis confirmed by genetic testing for CPOX pathogenic variants; management with intravenous hemin and prophylactic therapy
PMID: 36642627
2
Biallelic CPOX mutations cause harderoporphyria with coproporphyrinogen oxidase deficiency; CPOX mutations impair mitochondrial steroidogenic enzymes causing primary adrenal insufficiency
PMID: 40296768
3
CPOX protein levels correlate with protoporphyrin IX fluorescence in glioma cells and proliferative activity
PMID: 27644131
4
BALB.NCT-Cpox nct mice with CPOX mutations display hereditary coproporphyria symptoms including microcytic anemia, neuromuscular dysfunction, and sex-dependent hepatic/cutaneous pathology
PMID: 36967721
5
CPOX splice mutations cause microcytic hypochromic anemia through impaired heme synthesis
PMID: 35527013
6
CPOX is a genetic determinant of cerebrospinal fluid Alzheimer's disease biomarker levels
PMID: 33991015
Disease Associationsβ“˜22
hereditary coproporphyriaOpen Targets
0.83Strong
harderoporphyriaOpen Targets
0.77Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
CPOX-related hereditary coproporphyriaOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.40Weak
Abruptio PlacentaeOpen Targets
0.27Weak
early-onset non-syndromic cataractOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
Partial congenital cataractOpen Targets
0.11Weak
Cataract-microcornea syndromeOpen Targets
0.11Weak
early-onset nuclear cataractOpen Targets
0.10Weak
early-onset zonular cataractOpen Targets
0.10Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.10Suggestive
isolated ectopia lentisOpen Targets
0.10Suggestive
Blackfan-Diamond anemiaOpen Targets
0.10Suggestive
pulverulent cataractOpen Targets
0.10Suggestive
cataract 35Open Targets
0.09Suggestive
HarderoporphyriaUniProt
Hereditary coproporphyriaUniProt
Pathogenic Variants40
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)Pathogenic
Harderoporphyria|not provided|Harderoporphyria;Hereditary coproporphyria|CPOX-related hereditary coproporphyria
β˜…β˜…β˜†β˜†2025β†’ Residue 404
NM_000097.7(CPOX):c.127_131dup (p.Gly45fs)Pathogenic
Coproporphyria|not provided|CPOX-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 45
NM_000097.7(CPOX):c.939dup (p.Lys314fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 314
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)Pathogenic
not provided|Hereditary coproporphyria
β˜…β˜…β˜†β˜†2024β†’ Residue 201
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)Pathogenic
Hereditary coproporphyria|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 160
NM_000097.7(CPOX):c.1276C>T (p.Arg426Ter)Likely pathogenic
Hereditary coproporphyria
β˜…β˜†β˜†β˜†2025β†’ Residue 426
NM_000097.7(CPOX):c.647_648del (p.Glu216fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 216
NM_000097.7(CPOX):c.1061del (p.Val354fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 354
NM_000097.7(CPOX):c.1276dup (p.Arg426fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 426
NM_000097.7(CPOX):c.661C>T (p.Gln221Ter)Pathogenic
Hereditary coproporphyria
β˜…β˜†β˜†β˜†2025β†’ Residue 221
NM_000097.7(CPOX):c.717T>A (p.Cys239Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 239
NM_000097.7(CPOX):c.525del (p.Ser177fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 177
NM_000097.7(CPOX):c.824G>A (p.Trp275Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 275
NM_000097.7(CPOX):c.661_665del (p.Gln221fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 221
NM_000097.7(CPOX):c.488_509delinsAGCTGCTGATTCTGG (p.Val163fs)Likely pathogenic
CPOX-related hereditary coproporphyria
β˜…β˜†β˜†β˜†2023β†’ Residue 163
NM_000097.7(CPOX):c.645del (p.Glu216fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 216
NM_000097.7(CPOX):c.871G>T (p.Glu291Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 291
NM_000097.7(CPOX):c.139_151dup (p.Pro51fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 51
NM_000097.7(CPOX):c.701-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)Likely pathogenic
Hereditary coproporphyria
β˜…β˜†β˜†β˜†2021β†’ Residue 316
View on ClinVar β†—
Related Genes
SLC25A37Protein interaction100%ENDOVProtein interaction90%HEMK2Protein interaction85%HEMK1Protein interaction82%PPOXProtein interaction81%URODProtein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
71%
Brain
36%
Heart
22%
Ovary
22%
Lung
18%
Gene Interaction Network
Click a node to explore
CPOXSLC25A37ENDOVHEMK2HEMK1PPOXUROD
PROTEIN STRUCTURE
Preparing viewer…
PDB2AEX Β· 1.58 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.39–0.80]
RankingsWhere CPOX stands among ~20K protein-coding genes
  • #5,467of 20,598
    Most Researched87
  • #1,543of 5,498
    Most Pathogenic Variants40
  • #6,651of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedCPOX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
PMID: 36642627
Gastroenterology Β· 2023
1.00
2
Noncoding function of super enhancer derived
PMID: 40051047
RNA Biol Β· 2025
0.90
3
Hiding in the Shadows: CPOX Expression and 5-ALA Induced Fluorescence in Human Glioma Cells.
PMID: 27644131
Mol Neurobiol Β· 2017
0.80
4
Gene symbol: CPOX.
PMID: 17598218
Hum Genet Β· 2007
0.70
5
Primary adrenal insufficiency in patients with CPOX gene mutations.
PMID: 40296768
Eur J Endocrinol Β· 2025
0.60