FANCF Anticuerpo(N-20): sc-19327

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Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, birth defects, and chromosomal instability (1-7). At the cellular level, FA is characterized by spontaneous chromosomal breakage and a unique hypersensitivity to DNA cross-linking agents (1). At least eight complementation groups (A-G) have been identified and six FA genes (for subtypes A, C, D2, E, F, and G) have been cloned (2). The FA proteins lack sequence homologies or motifs that could point to a molecular function (1). Phosphorylation of FANC (Fanconi anemia complementation group) proteins is thought to be important for the function of the FA pathway (2,3). The FA proteins (FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG) cooperate in a common pathway, culminating in the monoubiquitination of FANCD2 protein and colocalization of FANCD2 and BRCA1 proteins in nuclear foci (4-6). FANCF protein is required for FANCD2 activation and appears to stabilize other subunits of the complex (5). The human FANCF gene maps to chromosome 11p15 (7) and encodes a nuclear protein with homology to the prokaryotic RNA-binding protein ROM (1).