DISEASES

Disease-gene associations mined from literature

Literature associating FANCM and congenital hypoplastic anemia

FANCM [ENSP00000267430]

Fanconi anemia-associated polypeptide of 250 kDa; 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. 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.

Synonyms:  FANCM,  H0YJ45,  H0YJN7,  H0YJS3,  Q8IYD8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM