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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COQ10A
coenzyme Q10A
Chromosome 12 · 12q13.3
NCBI Gene: 93058Ensembl: ENSG00000135469.15HGNC: HGNC:26515UniProt: Q96MF6
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial inner membraneubiquinone bindingcellular respirationAlzheimer diseaseParkinson diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

COQ10A is a lipid-binding START domain protein localized to the mitochondrial inner membrane that plays a critical role in coenzyme Q (CoQ) function within the respiratory electron transport chain 1. As a putative chaperone, COQ10A likely facilitates the delivery of CoQ to its catalytic sites in respiratory complexes, enabling efficient cellular energy metabolism and antioxidant protection against lipid peroxidation 1. The protein is functionally conserved across organisms, as human COQ10A rescues respiratory deficiency and oxidative stress sensitivity in yeast coq10 deletion mutants 1. COQ10A dysfunction is implicated in multiple pathological conditions: reduced plasma COQ10A concentrations correlate with mitochondrial dysfunction in myasthenia gravis patients 2, and COQ10A dysregulation appears associated with heart development abnormalities in Turner syndrome cardiomyocytes 3. Additionally, COQ10A has been identified as a hub gene in sepsis-induced cardiomyopathy, where altered expression contributes to cardiac dysfunction through impaired bioenergy metabolism 45. COQ10A variants are also proposed as genetic predisposing factors in statin-associated myopathy 6, suggesting its importance in muscle energy metabolism. These findings establish COQ10A as essential for mitochondrial respiration and indicate its potential as a biomarker for mitochondrial dysfunction-related diseases.

Sources cited
1
COQ10A is a lipid-binding START domain protein that functions as a chaperone for coenzyme Q delivery to respiratory complexes
PMID: 31048406
2
Reduced plasma COQ10A concentration is a biomarker of mitochondrial dysfunction in myasthenia gravis patients
PMID: 40843740
3
COQ10A is a hub gene in sepsis-induced cardiomyopathy associated with oxidative phosphorylation pathways
PMID: 31794266
4
COQ10A is downregulated in sepsis-induced cardiomyopathy and related to bioenergy metabolism dysfunction
PMID: 35003233
5
COQ10A variants are proposed genetic predisposing factors for statin-associated myopathy
PMID: 25428737
6
COQ10A is dysregulated in Turner syndrome cardiomyocytes and involved in mitochondrial respiratory chain function
PMID: 38124119
7
COQ10A is included in an endoplasmic reticulum stress-responsive gene prognostic model for colon cancer
PMID: 39159861
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.22Weak
lysosomal storage diseaseOpen Targets
0.22Weak
multiple sclerosisOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.22Weak
Parkinson diseaseOpen Targets
0.22Weak
psoriasisOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
SepsisOpen Targets
0.04Suggestive
risk-taking behaviourOpen Targets
0.03Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
pulmonary tuberculosisOpen Targets
0.01Suggestive
Lyme diseaseOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.00Suggestive
Myasthenia gravisOpen Targets
0.00Suggestive
Fatigable weaknessOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
skin squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COQ10BShared pathway100%CHCHD5Shared pathway100%COQ2Protein interaction76%COQ6Protein interaction76%COQ4Protein interaction76%COQ3Protein interaction76%
Tissue Expression6 tissues
Heart
100%
Liver
30%
Brain
13%
Ovary
12%
Lung
9%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
COQ10ACOQ10BCHCHD5COQ2COQ6COQ4COQ3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96MF6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.77–1.52]
RankingsWhere COQ10A stands among ~20K protein-coding genes
  • #13,161of 20,598
    Most Researched24
  • #15,305of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedCOQ10A
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Human COQ10A and COQ10B are distinct lipid-binding START domain proteins required for coenzyme Q function.
PMID: 31048406
J Lipid Res · 2019
1.00
2
Plasma Biomarkers of Mitochondrial Dysfunction in Patients with Myasthenia Gravis.
PMID: 40843740
Med Sci (Basel) · 2025
0.86
3
Construction of a prognostic model for colon cancer by combining endoplasmic reticulum stress responsive genes.
PMID: 39159861
J Proteomics · 2024
0.71
4
Statin-associated myopathy: from genetic predisposition to clinical management.
PMID: 25428737
Physiol Res · 2014
0.57
5
Potentially Critical Roles of
PMID: 31794266
DNA Cell Biol · 2020
0.43