APAF1


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APAF1

A gene on chromosome 12q23.1 that encodes a cytoplasmic protein, which initiates apoptosis. Apoptotic peptidase-activating factor 1 contains several copies of the WD-40 domain, a caspase recruitment domain (CARD) and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, APAF-1 forms an oligomeric apoptosome, which binds and cleaves caspase-9 preproprotein, releasing the activated form, which stimulates the caspase cascade that commits the cell to apoptosis.
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4] Human genes: APAF1, apoptotic peptidase activating factor 1; MAP2K4, mitogen-activated protein kinase kinase 4; TP53, tumor protein p53; DLC1, deleted in liver cancer 1; NMT1, N-myristoyltransferase 1; EF2S1, eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa; DYNLL1, dynein, light chain, LC8-type 1.
Finalmente, se produce el reclutamiento y la activacion de la procaspasa 9, que junto con el citocromo C y el factor 1 activador de la proteasa de la apoptosis o proteina APAF1 (Apoptosis Protease Activiting Factor 1), forman un complejo denominado apoptosoma.
More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression.