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FANCCFanconi anemia, complementation group C |
Known also as: FA3; FAC; FACC; FLJ14675;
| NCBI Gene ID: | 2176 |
| NCBI Ensembl Id: | ENSG00000158169 |
| MIM Id: (from NCBI OMIM database) | 227645 |
| 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 C. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- FANCONI ANEMIA (#227650 )
- FANCONI ANEMIA, COMPLEMENTATION GROUP C (227645)
- FANCONI ANEMIA (#227650 )
- FANCONI ANEMIA, COMPLEMENTATION GROUP C (227645)
| Authors | Title | Journal |
| Strathdee CA, Gavish H, Shannon WR, Buchwald M | Cloning of cDNAs for Fanconi's anaemia by functional complementation. | Nature April 1, 1992 |
| 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 |
| Hoshino T, Wang J, Devetten MP, Iwata N, Kajigaya S, Wise RJ, Liu JM, Youssoufian H | Molecular chaperone GRP94 binds to the Fanconi anemia group C protein and regulates its intracellular expression. | Blood June 1, 1998 |
| 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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