CYCS Chromosome 7
Cytochrome c, somatic
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What This Gene Does
This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]
Associated Conditions (3)
Thrombocytopenia
Thrombocytopenia 4
CYCS-related disorder
Key Variants
RS1583394618
Conflicting classifications of pathogenicity
Thrombocytopenia, Thrombocytopenia 4, Thrombocytopenia
Health Risk
RS121918552
Likely pathogenic
Thrombocytopenia 4, Thrombocytopenia, Thrombocytopenia 4
Health Risk
RS1583394629
Likely pathogenic
Thrombocytopenia, CYCS-related disorder, Thrombocytopenia
Health Risk
RS2535205469
Likely pathogenic
Thrombocytopenia 4, Thrombocytopenia 4
Health Risk
RS1562515878
Pathogenic
Thrombocytopenia 4, Thrombocytopenia 4
Health Risk
RS886037737
Pathogenic
Thrombocytopenia 4, Thrombocytopenia 4
Health Risk
RS1783403912
Pathogenic/Likely pathogenic
Thrombocytopenia 4, Thrombocytopenia 4
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1583394618 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Thrombocytopenia 4, Thrombocytopenia |
| RS121918552 | Health Risk | Likely pathogenic | Thrombocytopenia 4, Thrombocytopenia, Thrombocytopenia 4 |
| RS1583394629 | Health Risk | Likely pathogenic | Thrombocytopenia, CYCS-related disorder, Thrombocytopenia |
| RS2535205469 | Health Risk | Likely pathogenic | Thrombocytopenia 4, Thrombocytopenia 4 |
| RS1562515878 | Health Risk | Pathogenic | Thrombocytopenia 4, Thrombocytopenia 4 |
| RS886037737 | Health Risk | Pathogenic | Thrombocytopenia 4, Thrombocytopenia 4 |
| RS1783403912 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 4, Thrombocytopenia 4 |