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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COA8
cytochrome c oxidase assembly factor 8
Chromosome 14 Β· 14q32.33
NCBI Gene: 84334Ensembl: ENSG00000256053.10HGNC: HGNC:20492UniProt: A0A6Q8JUI0
21PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to reactive oxygen speciesmatrix side of mitochondrial inner membranemitochondrial respiratory chain complex IV assemblyprotein stabilizationmitochondrial complex IV deficiency, nuclear type 17leigh syndrome due to mitochondrial complex iv deficiencyIsolated cytochrome C oxidase deficiencymitochondrial disease
✦AI Summary

COA8 (cytochrome c oxidase assembly factor 8) is a mitochondrial protein essential for the assembly and function of cytochrome c oxidase (complex IV), the terminal component of the electron transport chain 1. The protein localizes to the matrix side of the mitochondrial inner membrane and protects COX from oxidative damage by stabilizing the complex during assembly 1. COA8 exhibits unique redox-sensitive regulation: under normal conditions, it is rapidly degraded by the ubiquitin-proteasome system, but oxidative stress stabilizes the protein, increasing its mature intramitochondrial form and enhancing COX protection 12. Loss-of-function mutations in COA8 cause mitochondrial complex IV deficiency, nuclear type 17, characterized by cavitating leukoencephalopathy with distinctive neuroimaging features and neurological deterioration 34. Animal models demonstrate that COA8 deficiency leads to impaired motor coordination, reduced COX activity across multiple tissues, and shortened lifespan under oxidative stress conditions 14. Recent studies have also implicated COA8 variants in cognitive performance and age-related hearing loss, suggesting broader roles in neurological function 56. The protein represents a critical link between cellular redox homeostasis and mitochondrial respiratory function.

Sources cited
1
COA8 assists COX assembly, is regulated by UPS and stabilized by oxidative stress, and knockout mice show motor defects and reduced COX activity
PMID: 30552096
2
COA8 mutations cause cavitating leukoencephalopathy with distinctive neuroimaging features
PMID: 37601282
3
COA8 deficiency causes specific COX deficiency with cavitating leukodystrophy and neurological impairment in Drosophila models
PMID: 31555154
4
COA8 is a redox-sensitive COX assembly factor whose levels increase with oxidative stress to protect COX from oxidative damage
PMID: 38526156
5
COA8 gene variants are associated with cognitive performance, specifically verbal digit span testing
PMID: 36621676
6
COA8 variants contribute to age-related hearing loss as a Mendelian hearing loss gene
PMID: 40055553
Disease Associationsβ“˜21
mitochondrial complex IV deficiency, nuclear type 17Open Targets
0.73Strong
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.52Moderate
Isolated cytochrome C oxidase deficiencyOpen Targets
0.43Moderate
mitochondrial diseaseOpen Targets
0.37Weak
intelligenceOpen Targets
0.34Weak
schizophreniaOpen Targets
0.34Weak
major depressive disorderOpen Targets
0.33Weak
autism spectrum disorderOpen Targets
0.31Weak
bipolar disorderOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.29Weak
obsessive-compulsive disorderOpen Targets
0.23Weak
anorexia nervosaOpen Targets
0.21Weak
Tourette syndromeOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
hearing lossOpen Targets
0.15Weak
major depressive episodeOpen Targets
0.10Weak
obesityOpen Targets
0.09Suggestive
insomniaOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.06Suggestive
Mitochondrial complex IV deficiency, nuclear type 17UniProt
Pathogenic Variants15
NM_001370595.2(COA8):c.41dup (p.Leu15fs)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 17|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_001370595.2(COA8):c.89_108dup (p.Thr37fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 37
NM_001370595.2(COA8):c.357dup (p.Lys120Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 120
NM_001370595.2(COA8):c.327_328insT (p.Glu110Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 110
NM_001370595.2(COA8):c.170_173dup (p.Pro59fs)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜…β˜†β˜†β˜†2023β†’ Residue 59
NM_001370595.2(COA8):c.352A>T (p.Lys118Ter)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜…β˜†β˜†β˜†2023β†’ Residue 118
NM_001370595.2(COA8):c.184_187del (p.Tyr62fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 62
NM_001370595.2(COA8):c.218del (p.Pro73fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 73
NM_001370595.2(COA8):c.388C>G (p.Gln130Glu)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜…β˜†β˜†β˜†2022β†’ Residue 130
NM_001370595.2(COA8):c.102_121dup (p.Gly41fs)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜…β˜†β˜†β˜†2019β†’ Residue 41
NM_001370595.2(COA8):c.328G>T (p.Glu110Ter)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜…β˜†β˜†β˜†β†’ Residue 110
NM_001370595.2(COA8):c.328GAA[1] (p.Glu111del)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜†β˜†β˜†β˜†2014β†’ Residue 111
NM_001370595.2(COA8):c.124-1G>APathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜†β˜†β˜†β˜†2014
NM_001370595.2(COA8):c.321+2T>ALikely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
ASDURFShared pathway25%PYURFShared pathway25%PET117Shared pathway25%PET100Shared pathway25%COA5Shared pathway25%HAPSTR2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
89%
Liver
59%
Lung
44%
Ovary
40%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
COA8ASDURFPYURFPET117PET100COA5HAPSTR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96IL0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.30LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.62–1.30]
RankingsWhere COA8 stands among ~20K protein-coding genes
  • #13,872of 20,598
    Most Researched21
  • #2,488of 5,498
    Most Pathogenic Variants15
  • #13,736of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedCOA8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Association between mitochondria-related genes and cognitive performance in the PsyCourse Study.
PMID: 36621676
J Affect Disord Β· 2023
1.00
2
Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis.
PMID: 40055553
Eur J Hum Genet Β· 2025
0.90
3
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
PMID: 30552096
EMBO Mol Med Β· 2019
0.80
4
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome
PMID: 37601282
Front Cell Neurosci Β· 2023
0.70
5
Knockdown of
PMID: 31555154
Front Physiol Β· 2019
0.60