Fanconi Anemia (FA) is an autosomal-recessive cancer-prone disorder characterized by congenital defects, progressive bone marrow failure, increased chromosomal breakage, defective DNA repair and cellular hypersensitivity to mitomycin C. Fanconi Anemia Complementation Group D (FANCD) is comprised of two separate proteins, FANCD1 and FANCD2. MTDH, an RNA binding protein, regulates expression of FANCD2 and FANCD1 (1). FANCD2 is mapped to chromosome 3p25.3, has a theoretical molecular weight of 166 kDa and is localized in the nucleus. FANCD2 is involved in the regulation of DNA-binding transcription factor activity and DNA stability through accurate and efficient pairing of homologs during meiosis to promote repair of double-strand DNA breaks (2). Ubiquitination is required for FANCD2 to bind to chromatin. In response to DNA damage, FANCD2 is monoubiquinated to result in colocalization with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair in the nucleus and is deubiquitinated upon DNA repair completion.
1. Bi, J., Areecheewakul, S., Li, Y., Yang, S., Zhang, Y., Ebeid, K.,... Meng, X. (2019). MTDH/AEG-1 downregulation using pristimerin-loaded nanoparticles inhibits Fanconi anemia proteins and increases sensitivity to platinum-based chemotherapy. Gynecol Oncol, 155(2), 349-358. doi:10.1016/j.ygyno.2019.08.014
2. Balcerek, J., Jiang, J., Li, Y., Jiang, Q., Holdreith, N., Singh, B.,... Tong, W. (2018). Lnk/Sh2b3 deficiency restores hematopoietic stem cell function and genome integrity in Fancd2 deficient Fanconi anemia. Nat Commun, 9(1), 3915. doi:10.1038/s41467-018-06380-1
|Product By Gene ID
- Fanconi anemia complementation group D2
- Protein FACD2
- Fanconi anemia group D2 protein
- Fanconi anemia, complementation group D2