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FANCBFanconi anemia, complementation group B |
Known also as: FA2; FAB; FACB; FAAP90; FAAP95;
| NCBI Gene ID: | 2187 |
| NCBI Ensembl Id: | ENSG00000181544 |
| MIM Id: (from NCBI OMIM database) | 300515 |
| 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 B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Nomura Y, Adachi N, Koyama H | Human Mus81 and FANCB independently contribute to repair of DNA damage during replication. | Genes Cells Oct. 1, 2007 |
| Garcia MJ, Fernandez V, Osorio A, Barroso A, Llort G, Lazaro C, Blanco I, Caldes T, de la Hoya M, Ramon Y Cajal T, Alonso C, Tejada MI, San Roman C, Robles-Diaz L, Urioste M, Benitez J | Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. | Breast Cancer Res Treat Jan. 1, 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 |
| Cheung KL, Iles RK, Robertson JF | Bony metastases from breast cancer - a study of foetal antigen 2 as a blood tumour marker. | World J Surg Oncol Jan. 1, 2010 |
| Smith IM, Mithani SK, Mydlarz WK, Chang SS, Califano JA | Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers. | ORL J Otorhinolaryngol Relat Spec Jan. 1, 2010 |
Last modification of this entry: Oct. 6, 2010.
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