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

Authors: Morison, IM  Cramer Borde, EM  Cheesman, EJ  Cheong, PL  Holyoake, AJ  Fichelson, S  Weeks, RJ  Lo, A  Davies, SM  Wilbanks, SM  Fagerlund, RD  Ludgate, MW  Da Silva Tatley, FM  Coker, MS  Bockett, NA  Hughes, G  Pippig, DA  Smith, MP  Capron, C  Ledgerwood, EC 
Citation: Morison IM, etal., Nat Genet. 2008 Apr;40(4):387-9. doi: 10.1038/ng.103. Epub 2008 Mar 16.
Pubmed: (View Article at PubMed) PMID:18345000
DOI: Full-text: DOI:10.1038/ng.103

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 with enhanced apoptotic activity in vitro. Notably, the family has no other phenotypic indication of abnormal apoptosis, implying that cytochrome c activity is not a critical regulator of most physiological apoptosis.


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RGD Object Information
RGD ID: 11352700
Created: 2016-07-15
Species: All species
Last Modified: 2016-07-15
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.