NCIt definition : Human APAF1 wild-type allele is located in the vicinity of 9q22.32 and is approximately
90 kb in length. This allele, which encodes apoptotic protease-activating factor 1,
plays a role in the mediation of caspase cleavage and the propagation of apoptosis.
APAF1 allele is inactivated in metastatic melanomas, leading to defects in the execution
of apoptotic cell death and chemoresistance.;
NCIt note : The protein encoded by the APAF1 gene mediates processing of procaspase-9 by oligomerizing
the precursors of procaspase-9 autoactivation and assembling the apoptosome complex.
Once activated, caspase-9 initiates a biochemical cascade involving the downstream
executioners caspase-3, -6, and -7. In addition, binding of cytochrome c to APAF1
triggers the activation of caspase-3 in the cytochrome c/dATP-dependent apoptotic
pathway. APAF1 is inactivated in metastatic melanomas, leading to defects in the execution
of apoptotic cell death and chemoresistance.;