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MT-CYB

Chr mitochondria

mitochondrially encoded cytochrome b

Aliases:
COB, CYTB, UQCR3

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    MITOCHONDRIAL
  • Mitochondrial disorders

    MITOCHONDRIAL
  • Undiagnosed metabolic disorders

    MITOCHONDRIAL
  • Albinism or congenital nystagmus

    MITOCHONDRIAL
  • Infantile nystagmus

    MITOCHONDRIAL
  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL
  • Sudden death in young people

    MITOCHONDRIAL

Disease associations (Open Targets)

  • Leber hereditary optic neuropathy

    0.69
  • histiocytoid cardiomyopathy

    0.63
  • mitochondrial disease

    0.63
  • Exercise intolerance

    0.62
  • mitochondrial encephalomyopathy

    0.62
  • MELAS syndrome

    0.55
  • mitochondrial myopathy with reversible cytochrome C oxidase deficiency

    0.51
  • maternally-inherited diabetes and deafness

    0.45
  • inborn mitochondrial myopathy

    0.44
  • Mitochondrial myopathy

    0.44

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

Protein function (UniProt)

Cytochrome b

Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis

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.