UQCC4

Chr 16

ubiquinol-cytochrome c reductase complex assembly factor 4

Also known as: C16orf91, CCSMST1, URLC5, gs103

NCBI Gene: 283951ENSG00000174109UniProt: Q4G0I0

Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted
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?
1.83LOEUF
pLI 0.000
Z-score -0.93
OE 1.28 (0.86–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.38Z-score
OE missense 1.07 (0.96–1.20)
227 obs / 211.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.28 (0.86–1.83)
0≤0.351.4
Missense OE?1.07 (0.96–1.20)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 16 / 12.5Missense obs/exp: 227 / 211.6Syn Z: -1.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UQCC4 · 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