COQ5

Chr 12

coenzyme Q5, methyltransferase

Also known as: COQ10D9

NCBI Gene: 84274ENSG00000110871UniProt: Q5HYK3

Enables 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. Part of protein-containing complex. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCoenzyme Q10 deficiency, primary, 9

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — COQ5
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.72
OE 0.56 (0.34–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.36Z-score
OE missense 1.08 (0.96–1.21)
191 obs / 177.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.56 (0.34–0.95)
0≤0.351.4
Missense OE?1.08 (0.96–1.21)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 10 / 17.8Missense obs/exp: 191 / 177.4Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COQ5 · 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