UQCRH

Chr 1AR

ubiquinol-cytochrome c reductase hinge protein

Also known as: MC3DN11, QCR6, UQCR8

NCBI Gene: 7388ENSG00000173660UniProt: P07919

Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Apr 2025]

Primary Disease Associations & Inheritance

?Mitochondrial complex III deficiency, nuclear type 11MIM #620137
AR
25
ClinVar variants
7
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— UQCRH
🧬
Gene-Disease Validity (ClinGen)
mitochondrial disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 18 VUS of 25 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.35LOEUF
pLI 0.002
Z-score 0.92
OE 0.64 (0.34–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.17Z-score
OE missense 0.94 (0.74–1.19)
49 obs / 52.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.64 (0.34–1.35)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.74–1.19)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.08
0≤1.21.6
LoF obs/exp: 5 / 7.8Missense obs/exp: 49 / 52.4Syn Z: -0.30

ClinVar Variant Classifications

25 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic2
VUS18
5
Pathogenic
2
Likely Pathogenic
18
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
4
0
5
Likely Pathogenic
0
0
2
0
2
VUS
1
12
5
0
18
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total21211025

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

UQCRH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Mitochondrial complex III deficiency, nuclear type 11

MIM #620137

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Vidali S et al.·EMBO Mol Med
2021Functional
UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells.
Luo Y et al.·Sci Rep
2020
Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction.
Spielmann N et al.·Mamm Genome
2023
The mitochondrial hinge protein, UQCRH, is a novel prognostic factor for hepatocellular carcinoma.
Park ER et al.·Cancer Med
2017
Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer.
Miyakuni K et al.·Mol Oncol
2022
A Macrophage-Derived 7-Gene Signature Predicts Prognosis and Therapeutic Response in Hepatocellular Carcinoma.
Li X et al.·IUBMB Life
2025
TMEM106C, BSG, COPE, CDCA8, KPNA2, LIG1, UQCRH, and CCT5: Predictive of Survival and Immunotherapy Resistance in Hepatocellular Carcinoma.
Yu K et al.·Hum Mutat
2026
Platelet biomarkers for a descending cognitive function: A proteomic approach.
Yu H et al.·Aging Cell
2021
The lncRNA SNHG3 regulates energy metabolism of ovarian cancer by an analysis of mitochondrial proteomes.
Li N et al.·Gynecol Oncol
2018
A Novel Oxidative Phosphorylation-Associated Gene Signature for Prognosis Prediction in Patients with Hepatocellular Carcinoma.
Chen W et al.·Dis Markers
2022Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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