Fanconi Anemia Associated Protein 100kDa (FAAP100)

FAAP100 is a component of the Fanconi anemia (FA) core complex and is required for core complex stability and FANCD2 monoubiquitination.

The nuclear localization of FAAP100 was defective in cells with deficiency of FANCA or FANCM. When FAAP100 was depleted in HeLa cells with siRNA oligos, the other components of the core complex also were reduced. Ling et al. (2007) created a knockout chicken B-cell line for the avian FAAP100 gene and found that the cellular phenotype had the hallmarks of Fanconi anemia, including hypersensitivity to DNA crosslinking drugs and MMC-induced chromosomal breakage. Ling et al. (2007) concluded that FAAP100 is an essential component of the FA-BRCA-associated network that responds to DNA damage.