Anti-FANCI (Ser559) Antibody

Fanconi anemia, FA, is a rare disorder where cells cannot prevent, repair, or tolerate DNA damage, leading to cancer, progressive bone marrow failure and developmental abnormalities (Ishiai et al., 2008). 16 genes have been implicated in FA, and their products constitute a common FA pathway (Walden and Deans 2014). FANCI (Fanconi anemia complementation group I), is one of two substrates for monoubiquitnation by the FANCL-containing core complex, and is crucial for DNA repair via FAP and intrastrand cross-links (Walden and Deans, 2014). Phosphorylation of Ser-556 and Ser-559 are highly conserved and have been determined to be ATM/ATR kinase substrates for the FA-DNA pathway (Smogorzewska et al., 2007). Furthermore, the phosphorylation of Ser-556 and Ser-559 have been shown to play key roles in FANCI physically associating with FANCD2, stabilizing the ID2 complex, and supporting its DNA binding and subsequent D2-ubiquitination (Walden and Deans, 2014). Research continues to determine if one site plays more of a role in the DNA repair/damage checkpoint of the FA pathway and stabilization of the ID2 complex.