COQ7

Chr 16AR

coenzyme Q7, hydroxylase

Also known as: CAT5, COQ10D8, HMNR9

NCBI Gene: 10229ENSG00000167186UniProt: Q99807OMIM: 601683

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Coenzyme Q10 deficiency, primary, 8MIM #616733
AR
Neuronopathy, distal hereditary motor, autosomal recessive 9MIM #620402
AR

Clinical highlights

Gene-disease validity (ClinGen)
distal hereditary motor neuropathy · ARStrongappropriate for clinical testing
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.49
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — COQ7
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
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?
-0.46Z-score
OE missense 1.11 (0.97–1.27)
153 obs / 137.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.86 (0.52–1.49)
0≤0.351.4
Missense OE?1.11 (0.97–1.27)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 9 / 10.5Missense obs/exp: 153 / 137.7Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients