CYC1

Chr 8

cytochrome c1

Also known as: MC3DN6, UQCR4

NCBI Gene: 1537 ENSG00000179091 UniProt: P08574

The CYC1 protein is a catalytic core subunit of mitochondrial respiratory chain complex III (cytochrome bc1 complex) that transfers electrons from the Rieske iron-sulfur protein to cytochrome c during oxidative phosphorylation. Autosomal recessive mutations cause mitochondrial complex III deficiency, nuclear type 6, a disorder affecting cellular energy production. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.639), consistent with its essential role in mitochondrial respiration.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex III deficiency, nuclear type 6

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARModerateconsider for supplementary testing

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.64

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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