Description
Product Characteristics:
Fanconi Anemia (FANC) is a human autosomal-recessive cancer susceptibility disorder characterized by congenital defects, progressive bone marrow failure, and cellular hypersensitivity to mitomycin C (MMC). The FANC subunit D2 protein is vital for cellular resistance to DNA cross-linking and the arrest of DNA synthesis after ionizing radiation. DNA damage activates the monoubiquitination of FANC D2, targeting nuclear foci containing the BRCA 1 protein.
Subcellular location: Nucleus
Synonyms: FANCD2 phospho S1404, FANCD2 phospho Ser1404, p-FANCD2 phospho S1404, FA 4, FA D2, FA4, FAC D2, FACD 2, FACD, FACD2, FAD, FAD2, FANC D2, FANCD 2, FANCD, Protein FACD2, Type 4 Fanconi pancytopenia, FACD2_HUMAN, Fanconi anemia group D2 protein, Protein FACD2.
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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]