COA6

Chr 1

cytochrome c oxidase assembly factor 6

Also known as: C1orf31, CEMCOX4, MC4DN13

NCBI Gene: 388753ENSG00000168275UniProt: Q5JTJ3

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex IV deficiency, nuclear type 13

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.45
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — COA6
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?
1.45LOEUF
pLI 0.006
Z-score 0.81
OE 0.65 (0.32–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.72Z-score
OE missense 0.75 (0.60–0.95)
50 obs / 66.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.32–1.45)
0≤0.351.4
Missense OE?0.75 (0.60–0.95)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 4 / 6.2Missense obs/exp: 50 / 66.5Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COA6 · 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