AlphaFold predicted structure
UQCRQ · O14949
Mean pLDDT
94.5/ 100
Very high
82 residues
Confidence breakdown
- Very high(≥ 90)88%
- Confident(70–90)10%
- Low(50–70)2%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
UQCRQ
Chr 5q31.1ubiquinol-cytochrome c reductase complex III subunit VII
- Aliases:
- QP-C, QCR8, UQCR7
- MANE:
- ENST00000378670.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex III deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
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Disease associations (Open Targets)
neurodegenerative disease
0.56Isolated CoQ-cytochrome C reductase deficiency
0.53mitochondrial complex III deficiency
0.46lysosomal storage disease
0.29Alzheimer disease
0.27Parkinson disease
0.27multiple sclerosis
0.27autoimmune disorder of central nervous system
0.12autosomal dominant macrothrombocytopenia
0.07thrombocytopenia 4
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cytochrome b-c1 complex subunit 8
Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c