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FANCEFanconi anemia, complementation group E |
Known also as: FAE; FACE;
| NCBI Gene ID: | 2178 |
| NCBI Ensembl Id: | ENSG00000112039 |
| MIM Id: (from NCBI OMIM database) | 600901 |
| Species: | Homo sapiens |
| 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 E. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| de Winter JP, Leveille F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H | Isolation of a cDNA representing the Fanconi anemia complementation group E gene. | Am J Hum Genet Nov. 1, 2000 |
| Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter J, Joenje H, Gergely F, Patel KJ | FANCE: the link between Fanconi anaemia complex assembly and activity. | EMBO J July 1, 2002 |
| McWilliams RR, Bamlet WR, de Andrade M, Rider DN, Couch FJ, Cunningham JM, Matsumoto ME, Rabe KG, Hammer TJ, Petersen GM | Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. | Cancer Epidemiol Biomarkers Prev Sept. 1, 2009 |
| Loizidou MA, Cariolou MA, Neuhausen SL, Newbold RF, Bashiardes E, Marcou Y, Michael T, Daniel M, Kakouri E, Papadopoulos P, Malas S, Hadjisavvas A, Kyriacou K | Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. | Breast Cancer Res Treat May 1, 2010 |
| Monsees GM, Kraft P, Chanock SJ, Hunter DJ, Han J | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | Breast Cancer Res Treat May 23, 2010 |
Last modification of this entry: Oct. 6, 2010.
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