DISEASES

Disease-gene associations mined from literature

Literature associating FANCM and Rothmund-Thomson syndrome

FANCM [ENSP00000267430]

Fanconi anemia group M protein; DNA-dependent ATPase component of the Fanconi anemia (FA) core complex . Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross- linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork- structured DNA (fsDNA) and Holliday junction substrates . Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX . In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates . In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA . ECO:0000269|PubMed:16116434, ECO:0000269|PubMed:17289582, ECO:0000269|PubMed:19423727, ECO:0000269|PubMed:20347428,

Synonyms:  FANCM,  H0YJ14,  H0YJ45,  H0YJN7,  H0YJS3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM