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CYCS

Chr 7p15.3

cytochrome c, somatic

Aliases:
HCS, CYC
MANE:
ENST00000305786.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited bleeding disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Likely inborn error of metabolism

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Mitochondrial disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Possible mitochondrial disorder - nuclear genes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Childhood onset dystonia, chorea or related movement disorder

  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • thrombocytopenia 4

    0.75
  • Thrombocytopenia

    0.65
  • neurodegenerative disease

    0.56
  • hereditary thrombocytopenia with normal platelets

    0.56
  • autosomal thrombocytopenia with normal platelets

    0.37
  • Abnormal bleeding

    0.26
  • cancer

    0.10
  • hepatocellular carcinoma

    0.08
  • ischemia

    0.08
  • esophageal disorder

    0.08

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

Protein function (UniProt)

Cytochrome c

Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain

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.