FANCM Polyclonal Antibody

disease:Defects in FANCM are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, 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.,function:ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA.,PTM:Phosphorylated; hyperphosphorylated in response to genotoxic stress.,sequence caution:Intron retention.,similarity:Belongs to the DEAD box helicase family. DEAH subfamily.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,subunit:Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24. The complex is not found in FA patients. Interacts with FAAP24. Interacts with EME1.,