Fanconi anemia core complex-associated protein 24 (FAAP24)

Fanconi anemia core complex-associated protein 24 (FAAP24) is a DNA repair protein that forms a heterodimer with FANCM and anchors the Fanconi anemia (FA) core complex to chromatin at sites of DNA damage, primarily repairing DNA interstrand crosslinks[1][2][3][6]. FAAP24 contains a pseudo-nuclease domain and a helix-hairpin-helix (HhH)2 domain, and is structurally related to XPF/MUS81 endonucleases but lacks nuclease activity[1][2]. The FAAP24–FANCM complex recognizes and binds to single-stranded and branched DNA structures and is essential for the recruitment and activation of the FA pathway, which includes the monoubiquitination of FANCD2 and checkpoint signaling via ATR in response to replication stress and DNA crosslinks[2][3][4][6]. Loss of FAAP24 function results in genomic instability and hypersensitivity to DNA crosslinking agents, and is mechanistically implicated in the pathogenesis of Fanconi anemia, a rare inherited disorder predisposing to cancer due to faulty DNA repair[2][3][5]. FAAP24 is not a traditional direct therapeutic target (such as a receptor or enzyme), but its central role in DNA repair and genomic stability makes it a significant focus in studies of cancer susceptibility and synthetic lethality approaches[2][3][5][6].

Other names

Fanconi anemia-associated protein of 24 kDaC19orf40FLJ46828MGC32020