DISEASES

Disease-gene associations mined from literature

Literature associating MCM9 and primary ovarian insufficiency

MCM9 [ENSP00000314505]

DNA helicase MCM9; Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross- links (ICLs) by homologous recombination (HR) . Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity . Probably by regulating the localization of the MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs . Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand . In addition, recruits MLH1, a component of the MMR complex, to chromatin . The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression . Probably by regulating HR, plays a key role during gametogenesis (By similarity). ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093,

Synonyms:  MCM9,  MCM9p,  hMCM9,  A0A0S2Z662,  D6RE85 ...

Linkouts:  STRING  Pharos  UniProt  OMIM