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Article

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

Nature genetics - 1 Apr 2008

Morison Ian M, Cramer Bordé Elisabeth M, Cheesman Emma J, Cheong Pak Leng, Holyoake Andrew J, Fichelson Serge, Weeks Robert J, Lo Alexandra, Davies Stefan M K, Wilbanks Sigurd M, Fagerlund Robert D, Ludgate Mathew W, da Silva Tatley Fernanda M, Coker Melanie S A, Bockett Nicholas A, Hughes Gillian, Pippig Diana A, Smith Mark P, Capron Claude, Ledgerwood Elizabeth C

Abstract excerpt

We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant...

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Source

Identifiers

PMID: 18345000
DOI: 10.1038/ng.103

Genes

CYCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18345000-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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