DISEASES

Disease-gene associations mined from literature

Literature associating MCM8 and 46 XX gonadal dysgenesis

MCM8 [ENSP00000368164]

DNA helicase MCM8; 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 MNR complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs . The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression . However, may play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) . Probably by regulating HR, plays a key role during gametogenesis (By similarity). Stabilizes MCM9 protein . ECO:0000269|PubMed:15684404, ECO:0000269|PubMed:23401855,

Synonyms:  MCM8,  MCM8p,  hMCM8,  Q9UJA3,  Q9UJA3p ...

Linkouts:  STRING  Pharos  UniProt