COQ7

Chr 16AR

coenzyme Q7, hydroxylase

Also known as: CAT5, CLK-1, CLK1, COQ10D8, HMNR9

NCBI Gene: 10229ENSG00000167186UniProt: Q99807

The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Primary Disease Associations & Inheritance

Coenzyme Q10 deficiency, primary, 8MIM #616733
AR
Neuronopathy, distal hereditary motor, autosomal recessive 9MIM #620402
AR
268
ClinVar variants
26
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— COQ7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
26 Pathogenic / Likely Pathogenic· 118 VUS of 268 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.49LOEUF
pLI 0.000
Z-score 0.42
OE 0.86 (0.52–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.46Z-score
OE missense 1.11 (0.97–1.27)
153 obs / 137.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.86 (0.52–1.49)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.11 (0.97–1.27)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.05
0≤1.21.6
LoF obs/exp: 9 / 10.5Missense obs/exp: 153 / 137.7Syn Z: -0.28

ClinVar Variant Classifications

268 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic4
VUS118
Likely Benign93
Benign21
Conflicting10
22
Pathogenic
4
Likely Pathogenic
118
VUS
93
Likely Benign
21
Benign
10
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
6
14
0
22
Likely Pathogenic
3
1
0
0
4
VUS
8
87
22
1
118
Likely Benign
1
4
48
40
93
Benign
0
3
16
2
21
Conflicting
—10
Total1410110043268

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

COQ7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Coenzyme Q10 deficiency, primary, 8

MIM #616733

Molecular basis of disorder known

Autosomal recessive

Neuronopathy, distal hereditary motor, autosomal recessive 9

MIM #620402

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — COQ7
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA et al.·J Inherit Metab Dis
2024
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P et al.·Mol Genet Metab
2023Functional
COQ7 defect causes prenatal onset of mitochondrial CoQ(10) deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I et al.·Eur J Hum Genet
2024Case report
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP et al.·Brain
2023
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.
Sait H et al.·J Genet
2024Case report
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A et al.·Brain
2023
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Qiu Y et al.·Ann Clin Transl Neurol
2024Case report
Modelling the human coenzyme Q deficiency in Drosophila melanogaster.
Fernández-Ayala DJM et al.·Free Radic Biol Med
2025Functional
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Wang Y et al.·J Cell Mol Med
2017Case report
Identification of small molecule inhibitors of human COQ7.
Tsuganezawa K et al.·Bioorg Med Chem
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools