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FANCMFanconi anemia, complementation group M |
Known also as: FAAP250; KIAA1596; MGC176453;
| NCBI Gene ID: | 57697 |
| NCBI Ensembl Id: | ENSG00000187790 |
| MIM Id: (from NCBI OMIM database) | 609644 |
| 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 M. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Collis SJ, Boulton SJ | FANCM: fork pause, rewind and play. | EMBO J Jan. 17, 2010 |
| Singh TR, Saro D, Ali AM, Zheng XF, Du CH, Killen MW, Sachpatzidis A, Wahengbam K, Pierce AJ, Xiong Y, Sung P, Meetei AR | MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. | Mol Cell March 26, 2010 |
| Yan Z, Delannoy M, Ling C, Daee D, Osman F, Muniandy PA, Shen X, Oostra AB, Du H, Steltenpool J, Lin T, Schuster B, Decaillet C, Stasiak A, Stasiak AZ, Stone S, Hoatlin ME, Schindler D, Woodcock CL, Joenje H, Sen R, de Winter JP, Li L, Seidman MM, Whitby MC, Myung K, Constantinou A, Wang W | A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. | Mol Cell March 26, 2010 |
| Huang M, Kim JM, Shiotani B, Yang K, Zou L, D'Andrea AD | The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response. | Mol Cell 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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