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FANCLFanconi anemia, complementation group L |
Known also as: POG; PHF9; FAAP43; FLJ10335;
| NCBI Gene ID: | 55120 |
| NCBI Ensembl Id: | ENSG00000115392 |
| MIM Id: (from NCBI OMIM database) | 608111 |
| 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 L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Hess CJ, Ameziane N, Schuurhuis GJ, Errami A, Denkers F, Kaspers GJ, Cloos J, Joenje H, Reinhardt D, Ossenkoppele GJ, Zwaan CM, Waisfisz Q | Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia. | Cell Oncol Jan. 1, 2008 |
| Longerich S, San Filippo J, Liu D, Sung P | FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL. | J Biol Chem Aug. 28, 2009 |
| 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 |
| Garcia MJ, Fernandez V, Osorio A, Barroso A, Fernandez F, Urioste M, Benitez J | Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. | Carcinogenesis Nov. 1, 2009 |
| Zhang J, Zhao D, Park HK, Wang H, Dyer RB, Liu W, Klee GG, McNiven MA, Tindall DJ, Molina JR, Fei P | FAVL elevation in human tumors disrupts Fanconi anemia pathway signaling and promotes genomic instability and tumor growth. | J Clin Invest May 3, 2010 |
Last modification of this entry: Oct. 6, 2010.
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