MCM8 Chromosome 20
Minichromosome maintenance 8 homologous recombination repair factor
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What This Gene Does
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. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
MCM family
Locus Type
gene with protein product
Location
20p12.3
Ensembl
ENSG00000125885
Associated Conditions (2)
Premature ovarian failure 10
Azoospermia
Key Variants
RS757546009
Conflicting classifications of pathogenicity
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS140044814
Likely pathogenic
Azoospermia, Premature ovarian failure 10, Azoospermia
Health Risk
RS2514428654
Likely pathogenic
Health Risk
RS2514500246
Likely pathogenic
Health Risk
RS531099221
Likely pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS775156125
Likely pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS138761187
Pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS140773345
Pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS201115244
Pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS606231343
Pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
RS756233245
Pathogenic
Health Risk
RS762416121
Pathogenic
Premature ovarian failure 10, Premature ovarian failure 10
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757546009 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS140044814 | Health Risk | Likely pathogenic | Azoospermia, Premature ovarian failure 10, Azoospermia |
| RS2514428654 | Health Risk | Likely pathogenic | — |
| RS2514500246 | Health Risk | Likely pathogenic | — |
| RS531099221 | Health Risk | Likely pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS775156125 | Health Risk | Likely pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS138761187 | Health Risk | Pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS140773345 | Health Risk | Pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS201115244 | Health Risk | Pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS606231343 | Health Risk | Pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS756233245 | Health Risk | Pathogenic | — |
| RS762416121 | Health Risk | Pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |
| RS777947820 | Health Risk | Pathogenic | — |
| RS869320753 | Health Risk | Pathogenic | Premature ovarian failure 10, Premature ovarian failure 10 |