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FANCAFanconi anemia, complementation group A |
Known also as: FA; FA1; FAA; FAH; FA-H; FACA; FANCH; MGC75158;
| NCBI Gene ID: | 2175 |
| NCBI Ensembl Id: | ENSG00000187741 |
| MIM Id: (from NCBI OMIM database) | 607139 |
| 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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Kupfer GM, Naf D, Suliman A, Pulsipher M, D'Andrea AD | The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. | Nat Genet Dec. 1, 1997 |
| Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I, Li SS | Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. | Proteomics June 1, 2007 |
| 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 |
| Liu CY, Wu MC, Chen F, Ter-Minassian M, Asomaning K, Zhai R, Wang Z, Su L, Heist RS, Kulke MH, Lin X, Liu G, Christiani DC | A Large-scale genetic association study of esophageal adenocarcinoma risk. | Carcinogenesis July 1, 2010 |
| Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | Diabetes Care Oct. 1, 2010 |
Last modification of this entry: Oct. 6, 2010.
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