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FANCD2 (Fanconi anemia group D2 protein) is required for maintenance of chromosomal stability. It promotes accurate and efficient pairing of homologs during meiosis. FANCD2 is involved in the repair of DNA double-stranded breaks, both by homologous recombination and single-stranded annealing. It is required for the targeting/stabilization of BLM to non-centromeric abnormal structures induced by replicative stress. FANCD2 promotes BRCA2/FANCD1 loading onto damaged chromatin. Defects in the FANCD2 gene result in Fanconi anemia complementation group D2. This disorder affects all bone marrow elements resulting in anemia, leukopenia, and thrombopenia.
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Protein Aliases: DKFZp762A223; FACD2; Fanconi anemia D2 protein; Fanconi anemia group D2 protein; Fanconi anemia group D2 protein homolog; Fanconi anemia, complementation group D2; FLJ23826; Protein FACD2
Gene Aliases: 2410150O07Rik; AU015151; BB137857; FA-D2; FA4; FACD; FAD; FAD2; FANCD; FANCD2
UniProt ID: (Human) Q9BXW9, (Mouse) Q80V62, (Rat) Q6IV68
Entrez Gene ID: (Human) 2177, (Mouse) 211651, (Rat) 312641
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