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UQCC3

Chr 11q12.3

ubiquinol-cytochrome c reductase complex assembly factor 3

Aliases:
UNQ655
MANE:
ENST00000377953.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorder with complex III deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Isolated CoQ-cytochrome C reductase deficiency

    0.52
  • mitochondrial complex III deficiency

    0.43
  • Abnormality of the skeletal system

    0.13
  • smoking initiation

    0.09
  • neoplasm

    0.08
  • viral infectious disease

    0.07
  • irritable bowel syndrome

    0.06
  • Alkuraya-Kucinskas syndrome

    0.03
  • esophageal disorder

    0.03
  • hepatocellular carcinoma

    0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ubiquinol-cytochrome-c reductase complex assembly factor 3

Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.