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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COQ9
coenzyme Q9
Chromosome 16 Β· 16q21
NCBI Gene: 57017Ensembl: ENSG00000088682.15HGNC: HGNC:25302UniProt: O75208
37PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrionmitochondrial inner membranelipid bindingencephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromeEncephalopathy - hypertrophic cardiomyopathy - renal tubular diseasecoenzyme Q10 deficiencygenetic disorder
✦AI Summary

COQ9 is a membrane-associated protein essential for coenzyme Q (ubiquinone) biosynthesis, a critical lipid-soluble electron transporter required for aerobic respiration 1. COQ9 functions as a lipid-binding protein that warps the mitochondrial inner membrane to access and present aromatic isoprene intermediates to COQ7, facilitating the COQ7-mediated hydroxylase step in CoQ synthesis 2. Mechanistically, COQ9 and COQ7 form multimeric complexes where two COQ7:COQ9 heterodimers assemble into curved tetramers that deform the membrane, creating a pathway for CoQ intermediates to translocate from the lipid bilayer to protein-binding sites 2. COQ9 stabilizes the mitochondrial CoQ-synthome complex, enhancing overall CoQ biosynthesis efficiency 3. Pathogenic COQ9 mutations cause primary coenzyme Q10 deficiency, a mitochondrial disorder presenting with variable phenotypes ranging from severe neonatal-onset multisystemic disease to childhood-onset hereditary spastic paraplegia 34. Clinically, reduced COQ9 function impairs cellular respiration and antioxidant defense, particularly affecting high-energy tissues like brain and muscle 5. Importantly, CoQ10 headgroup intermediates can therapeutically restore CoQ synthesis in COQ9-related deficiencies, offering potential treatment avenues for these patients 5.

Sources cited
1
COQ9 role in CoQ biosynthesis and ubiquinone as electron transporter for aerobic respiration
PMID: 25339443
2
COQ9 and COQ7 complex structure, membrane warping mechanism, and lipid-binding presentation to COQ7
PMID: 36306796
3
COQ9 stabilizes CoQ-synthome complex and human COQ9 mutations cause primary Q10 deficiency
PMID: 28736527
4
COQ9 mutations cause hereditary spastic paraplegia and variable clinical presentations of CoQ10 deficiency
PMID: 40579432
5
CoQ10 deficiency clinical relevance to brain and nervous system, and therapeutic potential of CoQ headgroup intermediates
PMID: 40634618
Disease Associationsβ“˜21
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromeOpen Targets
0.75Strong
Encephalopathy - hypertrophic cardiomyopathy - renal tubular diseaseOpen Targets
0.71Strong
coenzyme Q10 deficiencyOpen Targets
0.65Moderate
genetic disorderOpen Targets
0.41Moderate
mitochondrial diseaseOpen Targets
0.37Weak
coenzyme Q10 deficiency, primary, 1Open Targets
0.37Weak
Leigh syndromeOpen Targets
0.12Weak
systemic lupus erythematosusOpen Targets
0.05Suggestive
coronary atherosclerosisOpen Targets
0.04Suggestive
familial infantile bilateral striatal necrosisOpen Targets
0.04Suggestive
myopathy, distal, 5Open Targets
0.03Suggestive
Charcot-Marie-Tooth disease type 4FOpen Targets
0.03Suggestive
hereditary motor and sensory neuropathy, Okinawa typeOpen Targets
0.03Suggestive
Pelizaeus-Merzbacher disease, connatal formOpen Targets
0.03Suggestive
distal myopathy, Welander typeOpen Targets
0.03Suggestive
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderOpen Targets
0.03Suggestive
Autosomal recessive Charcot-Marie-Tooth disease with hoarsenessOpen Targets
0.03Suggestive
Charcot-Marie-Tooth disease type 2B1Open Targets
0.03Suggestive
KLHL9-related childhood-onset distal myopathyOpen Targets
0.03Suggestive
KLHL9-related early-onset distal myopathyOpen Targets
0.03Suggestive
Coenzyme Q10 deficiency, primary, 5UniProt
Pathogenic Variants24
NM_020312.4(COQ9):c.55C>T (p.Gln19Ter)Pathogenic
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 19
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)Pathogenic
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 244
NM_020312.4(COQ9):c.711+3G>CPathogenic
not provided|Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
β˜…β˜…β˜†β˜†2025
NM_020312.4(COQ9):c.679_680del (p.Met227fs)Pathogenic
not provided|Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 227
NM_020312.4(COQ9):c.197_198del (p.Gln66fs)Pathogenic
not provided|Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_020312.4(COQ9):c.522-1G>ALikely pathogenic
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome|not provided
β˜…β˜…β˜†β˜†2022
NM_020312.4(COQ9):c.409_412del (p.Met137fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 137
NM_020312.4(COQ9):c.522-2A>GLikely pathogenic
Melanoma|not provided
β˜…β˜†β˜†β˜†2025
NM_020312.4(COQ9):c.202dup (p.Ala68fs)Pathogenic
not provided|Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 68
NM_020312.4(COQ9):c.714dup (p.Asn239Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 239
NM_020312.4(COQ9):c.170C>G (p.Ser57Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 57
NM_020312.4(COQ9):c.242+2T>GLikely pathogenic
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
β˜…β˜†β˜†β˜†2025
NM_020312.4(COQ9):c.711+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)Pathogenic
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 53
NM_020312.4(COQ9):c.85C>T (p.Arg29Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 29
NM_020312.4(COQ9):c.196C>T (p.Gln66Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 66
NM_020312.4(COQ9):c.679dup (p.Met227fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 227
NM_020312.4(COQ9):c.521+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_020312.4(COQ9):c.592G>T (p.Glu198Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 198
NM_020312.4(COQ9):c.521+2T>CPathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
COQ6Protein interaction100%COQ4Protein interaction100%APTXProtein interaction85%PDSS1Protein interaction81%COQ5Protein interaction81%ETFDHProtein interaction80%
Tissue Expression6 tissues
Heart
100%
Liver
54%
Brain
20%
Ovary
18%
Lung
17%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
COQ9COQ6COQ4APTXPDSS1COQ5ETFDH
PROTEIN STRUCTURE
Preparing viewer…
PDB6AWL Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.57–1.03]
RankingsWhere COQ9 stands among ~20K protein-coding genes
  • #10,606of 20,598
    Most Researched37
  • #2,027of 5,498
    Most Pathogenic Variants24
  • #10,283of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedCOQ9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structure and functionality of a multimeric human COQ7:COQ9 complex.
PMID: 36306796
Mol Cell Β· 2022
1.00
2
Design of CoQ
PMID: 39952246
Cell Β· 2025
0.90
3
Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy.
PMID: 40634618
Nature Β· 2025
0.80
4
Human COQ9 Rescues a
PMID: 28736527
Front Physiol Β· 2017
0.70
5
DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation.
PMID: 34105294
Adv Sci (Weinh) Β· 2021
0.60