UQCRB

Chr 8

ubiquinol-cytochrome c reductase binding protein

Also known as: MC3DN3, QCR7, QP-C, QPC, UQBC, UQBP, UQCR6, UQPC

NCBI Gene: 7381 ENSG00000156467 UniProt: P14927

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.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex III deficiency, nuclear type 3

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.08

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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