MCM9
Developmental stage
The expression of isoform L and isoform M is cell cycle regulated: induced in S-phase, decreases through G2/M, and becomes constant through G1.
Function
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) (PubMed:23401855). 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 (PubMed:26215093). 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 (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Probably by regulating HR, plays a key role during gametogenesis (By similarity).
Involvement in disease
Ovarian dysgenesis 4
ODG4
A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG4 is an autosomal recessive condition.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MCM family.
Cellular localization
- Nucleus
- Chromosome
- Colocalizes to nuclear foci with RPA1 following DNA damage (PubMed:23401855). Localizes to double-stranded DNA breaks (PubMed:23401855). Recruited to chromatin by MSH2 (PubMed:26300262).
Alternative names
C6orf61, MCMDC1, MCM9, DNA helicase MCM9, hMCM9, Mini-chromosome maintenance deficient domain-containing protein 1, Minichromosome maintenance 9