FANCL Antibody (H-8): sc-137068

Defects in FANCL are a cause of Fanconi anemia. Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, birth defects and chromosomal instability. At the cellular level, FA is characterized by spontaneous chromosomal breakage and a unique hypersensitivity to DNA cross-linking agents. At least 8 complementation groups have been identified and 6 FA genes (for subtypes A, C, D2, E, F and G) have been cloned. Phosphorylation of FANC (Fanconi anemia complementation group) proteins is thought to be important for the function of the FA pathway. FA proteins cooperate in a common pathway, culminating in the monoubiquitination of FANCD2 protein and colocalization of FANCD2 and BRCA1 proteins in nuclear foci. FANCL is a ligase protein mediating the ubiquitination of FANCD2, a key step in the DNA damage pathway. FANCL may be required for proper primordial germ cell proliferation in the embryonic stage.