2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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14PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionmitochondrial respiratory chain complex IV assemblymitochondrial inner membraneneurodegenerative diseasefatal infantile encephalocardiomyopathyleigh syndrome due to mitochondrial complex iv deficiencyIsolated cytochrome C oxidase deficiency
Based on limited published evidence, COA5 is an assembly factor for cytochrome c oxidase (respiratory chain complex IV) localized to the mitochondrial inner membrane. COA5 stabilizes early complex IV assembly intermediates until displaced by the copper-delivery protein COX17 12. Recent functional studies demonstrate COA5 is essential for the early stage of complex IV biogenesis, specifically between MTCO1 maturation and MTCO2 incorporation 3. Pathogenic COA5 variants cause mitochondrial complex IV deficiency and neonatal hypertrophic cardiomyopathy 3. COA5 expression is modulated during cardiac ischemia/reperfusion injury 4.
1
COA5 is an assembly factor for cytochrome c oxidase complex IV
PMID: 214579082
COA5 stabilizes early complex IV assembly factors until displaced by COX17 copper-delivery protein
PMID: 357507693
COA5 is essential for early complex IV assembly, specifically between MTCO1 maturation and MTCO2 incorporation; pathogenic variants cause complex IV deficiency
PMID: 397792194
COA5 expression is downregulated in cardiac microvascular endothelial cells during ischemia/reperfusion injury
PMID: 28334711⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
fatal infantile encephalocardiomyopathyOpen Targets
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
Isolated cytochrome C oxidase deficiencyOpen Targets
diverticular diseaseOpen Targets
smoking initiationOpen Targets
Testicular regression syndromeOpen Targets
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyOpen Targets
congenital adrenal hyperplasiaOpen Targets
congenital lipoid adrenal hyperplasia due to STAR deficencyOpen Targets
46,XY sex reversal 11Open Targets
46,XX ovotesticular disorder of sex developmentOpen Targets
testicular agenesisOpen Targets
46,XY sex reversal 3Open Targets
46,XY complete gonadal dysgenesisOpen Targets
46,XX gonadal dysgenesisOpen Targets
celiac diseaseOpen Targets
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyOpen Targets
pigmented nodular adrenocortical disease, primary, 3Open Targets
Abruptio PlacentaeOpen Targets
Mitochondrial complex IV deficiency, nuclear type 9UniProt
NM_001008215.3(COA5):c.157G>C (p.Ala53Pro)Pathogenic
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
☆☆☆☆2011→ Residue 53