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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COX15
cytochrome c oxidase assembly factor COX15
Chromosome 10 Β· 10q24.2
NCBI Gene: 1355Ensembl: ENSG00000014919.14HGNC: HGNC:2263UniProt: B4DQM2
59PubMed Papers
21Diseases
0Drugs
44Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingoxidoreductase activity, acting on the CH-CH group of donorsheme A biosynthetic processcytochrome complex assemblyfatal infantile encephalocardiomyopathyLeigh syndromegenetic disorderIsolated cytochrome C oxidase deficiency
✦AI Summary

COX15 encodes cytochrome c oxidase assembly factor COX15, which catalyzes heme A synthase activity in mitochondrial complex IV biogenesis 1. The protein functions as an oxidoreductase that converts heme O to heme A through successive hydroxylations, essential for cytochrome c oxidase assembly and mitochondrial respiratory chain function 1. COX15 deficiency causes severe mitochondrial complex IV deficiency, manifesting as Leigh syndrome with infantile cardioencephalomyopathy characterized by hypertrophic cardiomyopathy, encephalopathy, microcephaly, and persistent lactic acidosis 23. The R217W mutation represents a hotspot mutation associated with variable phenotypic expression, including progressive quadriparesis, convulsions, and pseudobulbar palsy 4. Recent studies reveal expanded COX15 roles beyond classical mitochondrial disorders. In reproductive biology, COX15 variants cause female infertility through oocyte ferroptosis, where impaired Fe2+ and reactive oxygen species homeostasis sensitizes oocytes to cell death 5. In cancer biology, COX15 functions as an oncogene promoting lung cancer cell proliferation, with Nrf2-mediated transcriptional upregulation 6. COX15 also contributes to vascular calcification in chr10 kidney disease through enhanced oxidative phosphorylation 7. Therapeutically, COX15 represents a potential target, with antagonistic microRNAs (Opantimirs) showing promise in correcting mitochondrial ultrastructure in disease models 8.

Sources cited
1
COX15 encodes cytochrome c oxidase assembly factor involved in complex IV biogenesis and heme A synthesis
PMID: 9878253
2
COX15 deficiency causes infantile cardioencephalomyopathy with complex IV deficiency
PMID: 21412973
3
COX15 mutations cause fatal infantile cardioencephalomyopathy with hypertrophic cardiomyopathy and hyperlacticemia
PMID: 33746038
4
R217W is a hotspot mutation in COX15 associated with Leigh syndrome and variable phenotypes
PMID: 32232962
5
COX15 variants cause female infertility through oocyte ferroptosis and mitochondrial dysfunction
PMID: 39471219
6
COX15 functions as an oncogene promoting lung cancer cell proliferation
PMID: 34547626
7
COX15 contributes to vascular calcification in chronic kidney disease through oxidative phosphorylation
PMID: 35277475
8
Opantimirs targeting COX15-related pathways show therapeutic promise in mitochondrial myopathies
PMID: 40712573
Disease Associationsβ“˜21
fatal infantile encephalocardiomyopathyOpen Targets
0.78Strong
Leigh syndromeOpen Targets
0.68Moderate
genetic disorderOpen Targets
0.45Moderate
Isolated cytochrome C oxidase deficiencyOpen Targets
0.41Moderate
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.41Moderate
mitochondrial diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
diverticular diseaseOpen Targets
0.18Weak
cardiomyopathyOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.07Suggestive
agingOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
secondary malignant neoplasmOpen Targets
0.05Suggestive
dilated cardiomyopathy 1IOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
abdominal abscessOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
colorectal adenomaOpen Targets
0.02Suggestive
chondromalaciaOpen Targets
0.02Suggestive
Mitochondrial complex IV deficiency, nuclear type 6UniProt
Pathogenic Variants44
NM_078470.6(COX15):c.649C>T (p.Arg217Trp)Pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 217
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)Pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|Leigh syndrome|not provided|See cases|COX15-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 151
NM_078470.6(COX15):c.686C>A (p.Ser229Ter)Pathogenic
not provided|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜…β˜†β˜†2025β†’ Residue 229
NM_078470.6(COX15):c.750+1G>TLikely pathogenic
not provided|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜…β˜†β˜†2024
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)Pathogenic
Leigh syndrome|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜…β˜†β˜†2024β†’ Residue 199
NM_078470.6(COX15):c.717G>A (p.Trp239Ter)Pathogenic
not provided|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜…β˜†β˜†2024β†’ Residue 239
NM_078470.6(COX15):c.750+1G>ALikely pathogenic
Inborn genetic diseases|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜…β˜†β˜†2024
NM_078470.6(COX15):c.281_282del (p.Glu94fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 94
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)Pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|Leigh syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 102
NM_078470.6(COX15):c.272+2T>GPathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2024
NM_078470.6(COX15):c.91-1G>CLikely pathogenic
not provided|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜…β˜†β˜†2023
NM_078470.6(COX15):c.834_845delinsT (p.Ala279fs)Likely pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜†β˜†β˜†2025β†’ Residue 279
NM_078470.6(COX15):c.830C>G (p.Ser277Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_078470.6(COX15):c.784C>T (p.Arg262Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 262
NM_078470.6(COX15):c.988-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_078470.6(COX15):c.559dup (p.Leu187fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 187
NM_078470.6(COX15):c.319G>T (p.Glu107Ter)Likely pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜†β˜†β˜†2024β†’ Residue 107
NM_078470.6(COX15):c.755del (p.Pro252fs)Likely pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
β˜…β˜†β˜†β˜†2024β†’ Residue 252
NM_078470.6(COX15):c.335_336insT (p.Ser113fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 113
NM_078470.6(COX15):c.372C>A (p.Tyr124Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 124
View on ClinVar β†—
Related Genes
SURF1Protein interaction99%SCO1Protein interaction98%UQCRFS1Protein interaction98%SCO2Protein interaction98%CYC1Protein interaction96%BCS1LProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Liver
98%
Ovary
89%
Heart
89%
Lung
66%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
COX15SURF1SCO1UQCRFS1SCO2CYC1BCS1L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7KZN9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.75–1.20]
RankingsWhere COX15 stands among ~20K protein-coding genes
  • #7,754of 20,598
    Most Researched59
  • #1,446of 5,498
    Most Pathogenic Variants44
  • #12,588of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedCOX15
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 39471219
Proc Natl Acad Sci U S A Β· 2024
1.00
2
Oxidative phosphorylation promotes vascular calcification in chronic kidney disease.
PMID: 35277475
Cell Death Dis Β· 2022
0.90
3
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
PMID: 21412973
Am J Med Genet A Β· 2011
0.80
4
A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
PMID: 33746038
Eur J Med Genet Β· 2021
0.70
5
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
PMID: 9878253
Genomics Β· 1998
0.60