Anti-FANCF Antibody

Descrição detalhada : Fanconi anemia group F protein (FANCF), also known as Protein FACF, and encoded by the gene symbol FANCF, is a DNA repair protein that may operate in a postreplication DNA repair or may be involved in a cell cycle checkpoint function. Recent studies have implicated that FACF may play an important role in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Mutations affecting the FANCF gene have been associated with Fanconi anemia complementation group F (FANCF), a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. This disorder is also associated with cardiac, renal and limb malformations, dermal pigmentary changes, 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.
Sinónimos : Fanconi anemia group F protein, Protein FACF, FANCF
Armazenamento : -20°C
Embalagem : 1X1EA