FAAP250, Fanconi anemia group M protein, Protein Hef ortholog,
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. The thirteen FA proteins that have been characterized are important for regulating chromosomal stability and genome surveillance. Eight of these proteins, namely FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM, comprise the FA core complex, which catalyzes a key reaction in DNA repair: the monoubiquitination of FANCD2. FANCM (Fanconi anemia, complementation group M) is a member of the DEAD-box helicase family of proteins and contains a DEAH helicase domain and a nuclease domain. Localizing to chromatin fractions, FANCM is phosphorylated in a cell cycle-dependent manner and is believed to function as an anchor, recruiting the FA core complex to chromatin. Mutations in the gene encoding FANCM can lead to Fanconi anemia.
