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FLASH GENE
Symbol MCM9 contributors: npt/mct/pgu - updated : 12-04-2021
HGNC name minichromosome maintenance complex component 9
HGNC id 21484
ASSOCIATED DISORDERS
corresponding disease(s) ODG4
Susceptibility to nondisjunction of chromosome 21 during meiosis I within oocyte and to birth of child with Down syndrome
Variant & Polymorphism other
  • maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mcm9 deficiency mouse have defect in spermatogonial self-renewal during adulthood, and distinct sex-specific cancers
  • MCM9(-/-) testes produce spermatozoa, albeit in much reduced quantity
  • Mcm9-deficient mice have gonadal failure, and fibroblasts from these mice show hypersensitivity to agents that induce DSBs and DNA crosslinks (i.e., ionizing radiation and MMC), resulting in a higher number of broken chromosomes, a hallmark of genomic instability