MCM9 Chromosome 6
Minichromosome maintenance 9 homologous recombination repair factor
Upload your DNA to see your personal genotypes for variants in MCM9.
What This Gene Does
The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
MCM family
Locus Type
gene with protein product
Location
6q22.31
Ensembl
ENSG00000111877
Associated Conditions (5)
Inborn genetic diseases
46
XX ovarian dysgenesis-short stature syndrome
Premature ovarian failure 1
Non-obstructive azoospermia
Key Variants
RS144338608
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1460351219
Conflicting classifications of pathogenicity
Health Risk
RS200408257
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2534754715
Likely pathogenic
Health Risk
RS772472098
Likely pathogenic
46, XX ovarian dysgenesis-short stature syndrome, 46
Health Risk
RS1060505058
Pathogenic
46, XX ovarian dysgenesis-short stature syndrome, 46
Health Risk
RS587777871
Pathogenic
Premature ovarian failure 1, 46, XX ovarian dysgenesis-short stature syndrome
Health Risk
RS774660544
Pathogenic
46, XX ovarian dysgenesis-short stature syndrome, 46
Health Risk
RS1380220881
Pathogenic/Likely pathogenic
46, XX ovarian dysgenesis-short stature syndrome, 46
Health Risk
RS587777872
Pathogenic/Likely pathogenic
46, XX ovarian dysgenesis-short stature syndrome, Premature ovarian failure 1
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144338608 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1460351219 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200408257 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2534754715 | Health Risk | Likely pathogenic | — |
| RS772472098 | Health Risk | Likely pathogenic | 46, XX ovarian dysgenesis-short stature syndrome, 46 |
| RS1060505058 | Health Risk | Pathogenic | 46, XX ovarian dysgenesis-short stature syndrome, 46 |
| RS587777871 | Health Risk | Pathogenic | Premature ovarian failure 1, 46, XX ovarian dysgenesis-short stature syndrome |
| RS774660544 | Health Risk | Pathogenic | 46, XX ovarian dysgenesis-short stature syndrome, 46 |
| RS1380220881 | Health Risk | Pathogenic/Likely pathogenic | 46, XX ovarian dysgenesis-short stature syndrome, 46 |
| RS587777872 | Health Risk | Pathogenic/Likely pathogenic | 46, XX ovarian dysgenesis-short stature syndrome, Premature ovarian failure 1 |