UQCRC1

Chr 3AD

ubiquinol-cytochrome c reductase core protein 1

Also known as: D3S3191, PKNPY, QCR1, UQCR1

NCBI Gene: 7384 ENSG00000010256 UniProt: P31930 OMIM: 191328

UQCRC1 encodes a core subunit of mitochondrial complex III (ubiquinol-cytochrome c oxidoreductase) that catalyzes electron transfer from ubiquinol to cytochrome c as part of the respiratory chain driving oxidative phosphorylation. Mutations cause autosomal dominant parkinsonism with polyneuropathy, reflecting the protein's important role in maintaining proper mitochondrial function in dopaminergic neurons. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.546).

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Parkinsonism with polyneuropathyMIM #619279

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ADDisputedevidence questions this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted

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GeneReview available — UQCRC1

Authoritative clinical overview · Recommended first read