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FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]..
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This is the first report of an FAAP24 loss of function mutation found in human patients with EBV-associated lymphoproliferation (show FAS Proteins).
These results demonstrate dual roles of FAAP24 in DNA damage response against crosslinking lesions, one through the formation of FANCM/FAAP24 heterodimer and the other via its ssDNA-binding activity required in optimized checkpoint activation.
Crystal structure of the FANCM-FAAP24 complex.
Results show that the first HhH (show SLC25A15 Proteins) motif of FAAP24 is a potential binding site for DNA, which plays a critical role in targeting FANCM-FAAP24 to chromatin.
FANCM and FAAP24 play multiple, while not fully epistatic, roles in maintaining genomic integrity.
FANCM/FAAP24 plays a role in ICL-induced checkpoint activation through regulating RPA recruiment at ICL-stalled replication forks.
FAAP24 targets FANCM to structures that mimic intermediates formed during the replication/repair of damaged DNA.
FANCM is an anchor required for recruitment of the FA core complex to chromatin, and the FANCM/FAAP24 interaction is essential for this chromatin-loading activity
FAAP24 is dispensable for DNA binding and branch migration activity of FANCM.
DNA damage recognition and remodeling activities of FANCM and FAAP24 cooperate to promote efficient activation of DNA damage checkpoints in Fanconi anemia (show PALB2 Proteins).
FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007
Fanconi anemia-associated protein of 24 kDa
, Fanconi anemia-associated protein, 24 kDa