FANCB - Fanconi anemia, complementation group B
Entrez Gene Name: Fanconi anemia, complementation group B
Entrez GeneID: Human(2187)
, Mouse(237211), Rat(501552)
, Mouse(237211), Rat(501552) Synonyms: BC022692, FA2, FAAP90, FAAP95, FAB, FACB, FANCB, FLJ34064, MGC31411, RGD1561555
Gene Summary
- Human (2187): 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 B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
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Literature References
- 17396147Ling C, Ishiai M, Ali AM, Medhurst AL, Neveling K, Kalb R, Yan Z, Xue Y, Oostra AB, Auerbach AD, Hoatlin ME, Schindler D, Joenje H, de Winter JP, Takata M, Meetei AR, Wang W. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.EMBO J 2007 04 18;26(8):2104-14
- 15502827Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H. X-linked inheritance of Fanconi anemia complementation group B.Nat Genet 2004 Nov 01;36(11):1219-24
- 11297559Qiao F, Moss A, Kupfer GM. Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.J Biol Chem 2001 Jun 29;276(26):23391-6 View 27 categorized literature findings and their references in IPA
