Description
Product Characteristics:
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.
Subcellular location: Nucleus
Synonyms: FAAP250, Fanconi anemia group M protein, Protein Hef ortholog,
Target Information: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity\, they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. [provided by RefSeq, Jul 2008]