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FANCFFanconi anemia, complementation group F |
Known also as: FAF; MGC126856;
| NCBI Gene ID: | 2188 |
| NCBI Ensembl Id: | ENSG00000183161 |
| MIM Id: (from NCBI OMIM database) | 603467 |
| 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 F. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H | The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. | Hum Mol Genet Nov. 1, 2000 |
| 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 |
| Saberwal G, Horvath E, Hu L, Zhu C, Hjort E, Eklund EA | The interferon consensus sequence binding protein (ICSBP/IRF8) activates transcription of the FANCF gene during myeloid differentiation. | J Biol Chem Nov. 27, 2009 |
| Barroso E, Pita G, Arias JI, Menendez P, Zamora P, Blanco M, Benitez J, Ribas G | The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. | Breast Cancer Res Treat Dec. 1, 2009 |
| 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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