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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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