KEGG   VARIANT: 54205v1
Entry
54205v1                      Variant                               
Name
CYCS mutation
Type
Gain of function
Gene
CYCS  cytochrome c, somatic [KO:K08738]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 123970
Network
nt06524  Apoptosis
Disease
H00978  Thrombocytopenia (THC)
Reference
  Authors
Fellner M, Parakra R, McDonald KO, Kass I, Jameson GNL, Wilbanks SM, Ledgerwood EC
  Title
Altered structure and dynamics of pathogenic cytochrome c variants correlate with increased apoptotic activity.
  Journal
Biochem J 478:669-684 (2021)
DOI:10.1042/BCJ20200793
Reference
  Authors
De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A
  Title
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
  Journal
Biochim Biophys Acta 1842:269-74 (2014)
DOI:10.1016/j.bbadis.2013.12.002
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