- FANCM
protein
Name=Fanconi anemia, complementation group M
caption=
width=
HGNCid=23168
Symbol=FANCM
AltSymbols=KIAA1596
EntrezGene=57697
OMIM=609644
RefSeq=XM_048128
UniProt= Q8IYD8
PDB=
ECnumber=3.6.1.-
Chromosome=14
Arm=q
Band=21.3
LocusSupplementaryData=Fanconi anemia, complementation group M, also known asFANCM is a human
gene .cite journal | author = Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O | title = 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 | journal = DNA Res. | volume = 7 | issue = 4 | pages = 273–81 | year = 2000 | month = August | pmid = 10997877 | doi = | url = | issn = ] cite journal | author = Meetei AR, Medhurst AL, Ling C, "et al" | title = A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M | journal = Nat. Genet. | volume = 37 | issue = 9 | pages = 958–63 | year = 2005 | month = September | pmid = 16116422 | doi = 10.1038/ng1626 | url = | issn = ]Function
The
protein encoded by this gene, FANCM displaysATPase activity and promotes dissociation of DNA triplexes. It is believed that FANCM in conjunction with other Fanconi anemia-associated proteins repairDNA at stalledreplication fork s.cite journal | author = Gari K, Décaillet C, Stasiak AZ, Stasiak A, Constantinou A | title = The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks | journal = Mol. Cell | volume = 29 | issue = 1 | pages = 141–8 | year = 2008 | month = January | pmid = 18206976 | doi = 10.1016/j.molcel.2007.11.032 | url = | issn = ]Disease linkage
Mutations in the FANCM gene are associated with
Fanconi anemia .cite journal | author = Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W | title = A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome | journal = Mol. Cell. Biol. | volume = 23 | issue = 10 | pages = 3417–26 | year = 2003 | month = May | pmid = 12724401 | pmc = 164758 | doi = | url = http://mcb.asm.org/cgi/pmidlookup?view=long&pmid=12724401 | issn = ]References
External links
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