FANCM [SEP] found in taxon
FANCM
Fanconi anemia, complementation group M, also known as FANCM is a human gene.
Function.
The protein encoded by this gene, FANCM displays DNA binding against fork structures and an ATPase activity associated with DNA branch migration. It is believed that FANCM in conjunction with other Fanconi anemia- proteins repair DNA at stalled replication forks, and stalled transcription structures called R-loops.
The structure of the C-terminus of FANCM (amino acids 1799-2048), bound to a partner protein FAAP24, reveals
how the protein complex recognises branched DNA. A structure of amino acids 675-790 of FANCM reveal how the protein binds duplex DNA through a remodeling of the MHF1:MHF2 histone-like protein complex.
Disease linkage.
Homozygous mutations in the FANCM gene are associated with Fanconi anemia, although several individuals with FANCM deficiency do not appear to have the disorder. A founder mutation in the Scandinavian population is also associated with a higher than average frequency of triple negative breast cancer in heterozygous carriers. FANCM carriers also have elevated