UQCRQ

Chr 5

ubiquinol-cytochrome c reductase complex III subunit VII

Also known as: MC3DN4, QCR8, QP-C, QPC, UQCR7

NCBI Gene: 27089ENSG00000164405UniProt: O14949

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex III deficiency, nuclear type 4

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.69
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — UQCRQ
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?
1.69LOEUF
pLI 0.048
Z-score 0.63
OE 0.62 (0.25–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.83 (0.65–1.08)
42 obs / 50.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.25–1.69)
0≤0.351.4
Missense OE?0.83 (0.65–1.08)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 2 / 3.2Missense obs/exp: 42 / 50.3Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UQCRQ · 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