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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.
COX17
cytochrome c oxidase copper chaperone COX17
Chromosome 3 Β· 3q13.33
NCBI Gene: 10063Ensembl: ENSG00000138495.7HGNC: HGNC:2264UniProt: C9J8T6
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial intermembrane spaceprotein bindingcytoplasmcopper chaperone activityneurodegenerative diseaseovarian neoplasmFailure to thriveAbruptio Placentae
✦AI Summary

COX17 is a mitochondrial copper metallochaperone essential for cytochrome c oxidase (Complex IV) assembly in the respiratory chain 1. COX17 binds two copper ions and delivers them to downstream chaperones: SCO1 and SCO2, which direct copper to the Cu(A) site on COX2, and COX11, which relays copper to the Cu(B) site on COX1 2. Mechanistically, COX17 acetylation by the MOF-KANSL complex promotes its copper delivery function and maintains Complex IV integrity and mitochondrial electron transport chain activity 3. In peripheral tissues, COX17 functions as a central copper chaperone targeting cuprous ions to oxidative phosphorylation pathways 4. Clinically, COX17 dysfunction is relevant to metabolic disorders and cancer progression. COX17 knockdown disrupts cytochrome c oxidase assembly and supercomplex organization, preventing normal respiratory complex biogenesis 2. In triple-negative breast cancer, COX17 depletion phenocopies copper chelation therapy effects, impairing Complex IV activity and metastatic capacity through AMPK/mTORC1 pathway modulation 5. While COX17 mutations are rare in COX deficiency patients 6, dysregulation of COX17 expression contributes to cancer progression and represents a potential therapeutic target 7.

Sources cited
1
COX17 is a copper metallochaperone involved in cytochrome c oxidase assembly
PMID: 15229189
2
COX17 knockdown affects COX assembly and supercomplex organization, with differential effects on Cu(A) vs Cu(B) site assembly
PMID: 19393246
3
MOF-mediated acetylation of COX17 promotes mitochondrial integrity and Complex IV activity
PMID: 37813994
4
COX17 functions as a copper chaperone in peripheral tissues targeting cuprous ions to utilization pathways
PMID: 32506322
5
COX17 depletion phenocopies copper chelation effects in breast cancer, impairing Complex IV and metastasis through AMPK/mTORC1 pathway
PMID: 34911956
6
COX17 mutations are not common causes of COX deficiency disorders
PMID: 11027508
7
COX17 is overexpressed in breast cancer and contributes to cancer progression
PMID: 39676279
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.53Moderate
ovarian neoplasmOpen Targets
0.32Weak
Failure to thriveOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
renal fibrosisOpen Targets
0.02Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SMIM20Shared pathway100%COX20Shared pathway100%TMEM223Shared pathway100%TIMM8BProtein interaction100%TIMM10Protein interaction100%TIMM9Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
66%
Brain
41%
Lung
39%
Bone Marrow
35%
Ovary
18%
Gene Interaction Network
Click a node to explore
COX17SMIM20COX20TMEM223TIMM8BTIMM10TIMM9
PROTEIN STRUCTURE
Preparing viewer…
PDB2L0Y Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.33LoF Tolerant
pLIβ“˜
0.42Tolerant
Observed/Expected LoF0.29 [0.10–1.33]
RankingsWhere COX17 stands among ~20K protein-coding genes
  • #8,539of 20,598
    Most Researched52
  • #13,932of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedCOX17
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Copper metabolism in cell death and autophagy.
PMID: 37055935
Autophagy Β· 2023
1.00
2
The molecular mechanisms of copper metabolism and its roles in human diseases.
PMID: 32506322
Pflugers Arch Β· 2020
0.90
3
COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function.
PMID: 37813994
Nat Metab Β· 2023
0.80
4
Copper depletion modulates mitochondrial oxidative phosphorylation to impair triple negative breast cancer metastasis.
PMID: 34911956
Nat Commun Β· 2021
0.70
5
Characterization and localization of human COX17, a gene involved in mitochondrial copper transport.
PMID: 10982038
Hum Genet Β· 2000
0.60