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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COX1
mitochondrially encoded cytochrome c oxidase I
Chromosome MT
NCBI Gene: 4512Ensembl: ENSG00000198804.2HGNC: HGNC:7419UniProt: P00395
89PubMed Papers
25Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Swiss-Prot Reviewed
Leber hereditary optic neuropathymitochondrial diseaseIsolated cytochrome C oxidase deficiencymitochondrial non-syndromic sensorineural hearing loss
✦AI Summary

COX1 (mitochondrial cytochrome c oxidase subunit I) is a core component of Complex IV in the mitochondrial electron transport chain, catalyzing the final step of oxidative phosphorylation. COX1 functions as part of a binuclear catalytic center containing heme A3 and copper B that reduces molecular oxygen to water, accepting electrons from cytochrome c via the dinuclear copper A center [PMID:NCBI]. This electron transfer creates the electrochemical gradient essential for ATP synthesis and energy production. COX1 is encoded by mitochondrial DNA and its translation is specifically terminated by the specialized mitochondrial release factor mtRF1, which recognizes the non-conventional AGA stop codon unique to COX1 1. Loss of mtRF1-mediated termination causes isolated cytochrome c oxidase deficiency and triggers mitochondrial quality control mechanisms including COX1 mRNA degradation 1. Mutations in COX1 are associated with multiple mitochondrial diseases including Leber hereditary optic neuropathy, sensorineural deafness, mitochondrial complex IV deficiency, and recurrent myoglobinuria. The discovery of specific translation termination mechanisms for COX1 provides insights into mitochondrial biology and may inform understanding of disease pathogenesis in mitochondrial cytochrome c oxidase disorders.

Sources cited
1
mtRF1 is a specialized release factor that recognizes the non-canonical AGA stop codon to terminate COX1 translation; loss of mtRF1 causes isolated COX deficiency and activates mitochondrial ribosome-associated quality control with COX1 mRNA degradation
PMID: 36302763
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜25
Leber hereditary optic neuropathyOpen Targets
0.71Strong
mitochondrial diseaseOpen Targets
0.71Strong
Isolated cytochrome C oxidase deficiencyOpen Targets
0.69Moderate
mitochondrial non-syndromic sensorineural hearing lossOpen Targets
0.67Moderate
refractory anemia with ringed sideroblastsOpen Targets
0.63Moderate
myoglobinuria, recurrentOpen Targets
0.63Moderate
MELAS syndromeOpen Targets
0.57Moderate
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureOpen Targets
0.56Moderate
MERRFOpen Targets
0.51Moderate
MERRF syndromeOpen Targets
0.51Moderate
Abnormal aortic valve physiologyOpen Targets
0.50Moderate
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.50Moderate
Abnormal mitral valve physiologyOpen Targets
0.49Moderate
Mitochondrial myopathyOpen Targets
0.49Moderate
Mitochondrial non-syndromic sensorineural deafnessOpen Targets
0.49Moderate
inborn mitochondrial myopathyOpen Targets
0.49Moderate
Tetralogy of FallotOpen Targets
0.48Moderate
familial colorectal cancerOpen Targets
0.45Moderate
Leigh syndromeOpen Targets
0.45Moderate
Kearns-Sayre syndromeOpen Targets
0.44Moderate
Colorectal cancerUniProt
Deafness, sensorineural, mitochondrialUniProt
Leber hereditary optic neuropathyUniProt
Mitochondrial complex IV deficiencyUniProt
Recurrent myoglobinuria mitochondrialUniProt
Pathogenic Variants21
NC_012920.1(MT-CO1):m.5920G>ALikely pathogenic
Myoglobinuria, recurrent|Mitochondrial disease
β˜…β˜…β˜…β˜†2024
NC_012920.1(MT-CO1):m.6930G>ALikely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1|Mitochondrial disease
β˜…β˜…β˜…β˜†2024
NC_012920.1(MT-CO1):m.6941delPathogenic
Tetralogy of Fallot
β˜†β˜†β˜†β˜†2018
NC_012920.1(MT-CO1):m.6277G>APathogenic
Familial colorectal cancer
β˜†β˜†β˜†β˜†2009
NC_012920.1(MT-CO1):m.7275T>CPathogenic
Familial colorectal cancer
β˜†β˜†β˜†β˜†2009
NC_012920.1(MT-CO1):m.6902delPathogenic
Tetralogy of Fallot
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6927delPathogenic
Tetralogy of Fallot|Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6936delPathogenic
Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6860delPathogenic
Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6817delPathogenic
Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.5954delPathogenic
Tetralogy of Fallot
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6608delPathogenic
Abnormal mitral valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6698delPathogenic
Abnormal mitral valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6688_6689insACCPathogenic
Abnormal mitral valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6743_6744insTGGPathogenic
Abnormal mitral valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6718_6719insGGGPathogenic
Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6750delPathogenic
Abnormal mitral valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6809_6810insAAGLikely pathogenic
Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6907_6908insCTCLikely pathogenic
Abnormal aortic valve physiology
β˜†β˜†β˜†β˜†
NC_012920.1(MT-CO1):m.6889_6890insGGGLikely pathogenic
Tetralogy of Fallot
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
COX10Protein interaction100%UQCR11Protein interaction100%UQCRHProtein interaction100%COX7A1Protein interaction100%NDUFA9Protein interaction100%NDUFB8Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Liver
45%
Brain
22%
Lung
9%
Bone Marrow
8%
Ovary
6%
Gene Interaction Network
Click a node to explore
COX1COX10UQCR11UQCRHCOX7A1NDUFA9NDUFB8
PROTEIN STRUCTURE
Preparing viewer…
PDB5Z62 Β· 3.60 Γ… Β· EM
View on RCSB β†—
RankingsWhere COX1 stands among ~20K protein-coding genes
  • #5,354of 20,598
    Most Researched89
  • #2,145of 5,498
    Most Pathogenic Variants21
Genes detectedCOX1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Anti-inflammatory drugs and their mechanism of action.
PMID: 9831328
Inflamm Res Β· 1998
1.00
2
COX-1 and COX-2 inhibitors.
PMID: 11566042
Best Pract Res Clin Gastroenterol Β· 2001
0.90
3
Role and regulation of cyclooxygenase-2 during inflammation.
PMID: 10390126
Am J Med Β· 1999
0.80
4
Etoricoxib.
PMID: 12466002
Drugs Β· 2002
0.70
5
Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.
PMID: 36302763
Nat Commun Β· 2022
0.60