UQCRB
Chr 8ARubiquinol-cytochrome c reductase binding protein
Also known as: MC3DN3, QCR7, QP-C, QPC, UQBC, UQBP, UQCR6, UQPC
The protein is a subunit of mitochondrial respiratory complex III (ubiquinol-cytochrome c oxidoreductase) that binds ubiquinone and transfers electrons during cellular respiration. Mutations cause mitochondrial complex III deficiency, nuclear type 3, inherited in an autosomal recessive pattern. The pathogenic mechanism appears to be dominant negative, where mutant proteins disrupt normal complex III function.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
138 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 36 | 0 | 37 |
Likely Pathogenic | 0 | 2 | 3 | 0 | 5 |
VUS | 1 | 26 | 7 | 0 | 34 |
Likely Benign | 0 | 3 | 26 | 5 | 34 |
Benign | 0 | 0 | 8 | 2 | 10 |
Conflicting | — | 4 | |||
| Total | 2 | 31 | 80 | 7 | 124 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UQCRB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools