Xcode Life

Gene: MCM8

Alternate names for this Gene: C20orf154|POF10|dJ967N21.5

Gene Summary: The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.3

Description of this Gene: minichromosome maintenance 8 homologous recombination repair factor

Type of Gene: protein-coding

rs454422 in MCM8 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO

PMID 20205591 2010 Host determinants of HIV-1 control in African Americans.

rs454422 in MCM8 gene and AIDS, PROGRESSION TO

PMID 20205591 2010 Host determinants of HIV-1 control in African Americans.

rs16991615 in MCM8 gene and Age at menopause

PMID 22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

PMID 23424626 2013 Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study.

PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 19448621 2009 Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.

PMID 23307926 2013 A genome-wide association study of early menopause and the combined impact of identified variants.

PMID 19448619 2009 Loci at chromosomes 13, 19 and 20 influence age at natural menopause.

PMID 29773799 2018 Elucidating the genetic architecture of reproductive ageing in the Japanese population.

rs16991615 in MCM8 gene and Anti-Mullerian Hormone Measurement

PMID 30649302 2019 Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.

rs16991615 in MCM8 gene and Breast Carcinoma

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs454422 in MCM8 gene and HIV-1, RESISTANCE TO

PMID 20205591 2010 Host determinants of HIV-1 control in African Americans.

rs454422 in MCM8 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

PMID 20205591 2010 Host determinants of HIV-1 control in African Americans.

rs16991615 in MCM8 gene and Menorrhagia

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs606231343 in MCM8 gene and PREMATURE OVARIAN FAILURE 10

PMID 25437880 2015 Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

rs16991615 in MCM8 gene and Plexiform leiomyoma

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs16991615 in MCM8 gene and Uterine Fibroids