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.

Transcriptomic analysis of peripheral blood mononuclear cells in rapid progressors in early HIV infection identifies a signature closely correlated with disease progression

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.

Muerte celular programada en protozoarios: el caso de Giardia intestinalis

More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression.