FANCM

Fanconi anemia, complementation group M
Identifiers
Symbol FANCM
Alt. symbols KIAA1596
Entrez 57697
HUGO 23168
OMIM 609644
PDB 4BXO (RCSB PDB PDBe PDBj)
RefSeq XM_048128
UniProt Q8IYD8
Other data
EC number 3.6.1.-
Locus Chr. 14 q21.3

Fanconi anemia, complementation group M, also known asFANCM is a human gene.[1][2]

Function

The protein encoded by this gene, FANCM displays DNA binding against fork structures[3] and an ATPase activity associated with dissociation of DNA triplexes. It is believed that FANCM in conjunction with other Fanconi anemia-associated proteins repair DNA at stalled replication forks.[4][5]

Disease linkage

Mutations in the FANCM gene are associated with Fanconi anemia.[6]

References

  1. ↑ Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
  2. ↑ Meetei AR, Medhurst AL, Ling C et al. (September 2005). "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M". Nat. Genet. 37 (9): 958–63. doi:10.1038/ng1626. PMC 2704909. PMID 16116422.
  3. ↑ ref name="PMID:23932590">Coulthard R, Deans AJ, Swuec P, Bowles M, Costa A, West SC, McDonald NQ (September 2013). "Architecture and DNA Recognition Elements of the Fanconi Anemia FANCM-FAAP24 Complex". Structure 21 (9): 1648–58. doi:10.1016/j.str.2013.07.006. PMID 23932590.
  4. ↑ Gari K, Décaillet C, Stasiak AZ, Stasiak A, Constantinou A (January 2008). "The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks". Mol. Cell 29 (1): 141–8. doi:10.1016/j.molcel.2007.11.032. PMID 18206976.
  5. ↑ Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. Cell 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.
  6. ↑ Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W (May 2003). "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Mol. Cell. Biol. 23 (10): 3417–26. doi:10.1128/MCB.23.10.3417-3426.2003. PMC 164758. PMID 12724401.

External links