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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COQ7
coenzyme Q7, hydroxylase
Chromosome 16 Β· 16p12.3
NCBI Gene: 10229Ensembl: ENSG00000167186.12HGNC: HGNC:2244UniProt: Q99807
42PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusmitochondrionmitochondrial inner membrane3-demethoxyubiquinone 3-hydroxylase (NADH) activityprimary coenzyme Q10 deficiency 8neuronopathy, distal hereditary motor, autosomal recessive 9encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromeEncephalopathy - hypertrophic cardiomyopathy - renal tubular disease
✦AI Summary

COQ7 is a mitochondrial diiron hydroxylase that catalyzes the penultimate step of ubiquinone (CoQ10) biosynthesis by hydroxylating 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position 1. The enzyme uses a substrate-mediated reduction mechanism whereby NADH shuttles electrons to the substrate, which then transfers electrons to the diiron centers, enabling oxygen activation for hydroxylation 1. COQ7 adopts a ferritin-like fold with a hydrophobic channel, and functions within a multimeric COQ7:COQ9 complex that accesses lipophilic precursors within the mitochondrial membrane 2. Beyond its catalytic role, COQ7 stabilizes other COQ polypeptides and regulates mitochondrial stress responses through nuclear gene expression independent of ubiquinone biosynthesis 3. COQ7 mutations cause primary CoQ10 deficiency, presenting as neonatal-onset neuromuscular, cardiorespiratory, and renal disease, or late-onset progressive neuropathy with developmental delay 4. Homozygous COQ7 variants have been associated with distal hereditary motor neuropathy and hereditary spastic paraplegia 56. Mechanistically, COQ7 deficiency impairs mitochondrial oxidative phosphorylation, forcing cells toward glycolytic metabolism 5. CoQ10 supplementation or precursor 2,4-dihydroxybenzoic acid can restore function in some patient cells, offering therapeutic potential 54.

Sources cited
1
COQ7 catalyzes hydroxylation via substrate-mediated reduction with NADH shuttling electrons to diiron centers
PMID: 23445365
2
COQ7 forms multimeric complexes with COQ9, features ferritin-like fold with hydrophobic channel for substrate access
PMID: 36306796
3
COQ7 has nuclear roles in modulating mitochondrial stress responses independent of ubiquinone biosynthesis
PMID: 25961505
4
COQ7 mutations cause primary CoQ10 deficiency with neonatal-onset or late-onset neuromuscular phenotypes
PMID: 37392700
5
COQ7 deficiency impairs oxidative phosphorylation and shifts cells toward glycolysis; CoQ10 supplementation restores function
PMID: 36454683
6
COQ7:COQ9 tetramers form pseudo-bilayer lipid structure facilitating translocations from membrane bilayer
PMID: 36306796
7
Homozygous COQ7 variants cause hereditary spastic paraplegia, expanding phenotypic spectrum of COQ7-related disorders
PMID: 38439593
Disease Associationsβ“˜22
primary coenzyme Q10 deficiency 8Open Targets
0.72Strong
neuronopathy, distal hereditary motor, autosomal recessive 9Open Targets
0.62Moderate
Encephalopathy - hypertrophic cardiomyopathy - renal tubular diseaseOpen Targets
0.37Weak
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromeOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
ectropionOpen Targets
0.07Suggestive
entropionOpen Targets
0.07Suggestive
FRAXF syndromeOpen Targets
0.03Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.03Suggestive
hereditary spastic paraplegiaOpen Targets
0.02Suggestive
coenzyme Q10 deficiencyOpen Targets
0.02Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.02Suggestive
distal hereditary motor neuropathyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
Gastrointestinal obstructionOpen Targets
0.01Suggestive
sensorineural hearing lossOpen Targets
0.01Suggestive
Coenzyme Q10 deficiency, primary, 8UniProt
Neuronopathy, distal hereditary motor, autosomal recessive 9UniProt
Pathogenic Variants11
NM_016138.5(COQ7):c.635_636del (p.Tyr212fs)Pathogenic
Primary coenzyme Q10 deficiency 8
β˜…β˜…β˜†β˜†2023β†’ Residue 212
NM_016138.5(COQ7):c.422T>A (p.Val141Glu)Pathogenic
Primary coenzyme Q10 deficiency 8
β˜…β˜†β˜†β˜†2024β†’ Residue 141
NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs)Likely pathogenic
Primary coenzyme Q10 deficiency 8
β˜…β˜†β˜†β˜†2020β†’ Residue 200
NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)Likely pathogenic
Primary coenzyme Q10 deficiency 8
β˜…β˜†β˜†β˜†β†’ Residue 16
NM_016138.5(COQ7):c.1A>G (p.Met1Val)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 9
β˜†β˜†β˜†β˜†2023β†’ Residue 1
NM_016138.5(COQ7):c.253-2A>TPathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 9
β˜†β˜†β˜†β˜†2023
NM_016138.5(COQ7):c.467T>A (p.Leu156Gln)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 9
β˜†β˜†β˜†β˜†2023β†’ Residue 156
NM_016138.5(COQ7):c.467T>G (p.Leu156Arg)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 9
β˜†β˜†β˜†β˜†2023β†’ Residue 156
NM_016138.5(COQ7):c.332T>C (p.Leu111Pro)Pathogenic
Primary coenzyme Q10 deficiency 8
β˜†β˜†β˜†β˜†2023β†’ Residue 111
NM_016138.5(COQ7):c.613_617delinsCAT (p.Ala205fs)Pathogenic
Primary coenzyme Q10 deficiency 8
β˜†β˜†β˜†β˜†β†’ Residue 205
NM_016138.5(COQ7):c.334A>G (p.Met112Val)Pathogenic
Primary coenzyme Q10 deficiency 8
β˜†β˜†β˜†β˜†β†’ Residue 112
View on ClinVar β†—
Related Genes
COQ3Protein interaction100%COQ8AProtein interaction97%COQ2Protein interaction92%PDSS2Protein interaction84%CLK3Protein interaction82%TELO2Protein interaction82%
Tissue Expression6 tissues
Heart
100%
Brain
63%
Ovary
57%
Liver
30%
Lung
28%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
COQ7COQ3COQ8ACOQ2PDSS2CLK3TELO2
PROTEIN STRUCTURE
Preparing viewer…
PDB7SSS Β· 2.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.59–1.25]
RankingsWhere COQ7 stands among ~20K protein-coding genes
  • #9,854of 20,598
    Most Researched42
  • #2,791of 5,498
    Most Pathogenic Variants11
  • #13,154of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedCOQ7
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
Manganese-driven CoQ deficiency.
PMID: 36229432
Nat Commun Β· 2022
0.90
3
Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.
PMID: 34244037
J Formos Med Assoc Β· 2022
0.80
4
Isolation and sequencing of the rat Coq7 gene and the mapping of mouse Coq7 to chromosome 7.
PMID: 8660658
Arch Biochem Biophys Β· 1996
0.70
5
New variants expand the neurological phenotype of COQ7 deficiency.
PMID: 38973597
J Inherit Metab Dis Β· 2024
0.60