FANCF: Proteins and Enzymes

FANCF (also called Protein FACF or Fanconi Anemia Group F protein) is involved in DNA repair, perhaps specifically with post-replication repair or a cell cycle checkpoint function. FANCF has also been implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. FANCF belongs to the multi-subunit Fanconi Anemia (FA) complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. FANCF is found within the nucleus. Defects in FANCF are a cause of Fanconi anemia (FA). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopaenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level, it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.