MCM6 Chromosome 2
Minichromosome maintenance complex component 6
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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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"MCM family|minichromosome maintenance 2-7 complex"
Locus Type
gene with protein product
Location
2q21.3
Ensembl
ENSG00000076003
Associated Conditions (1)
LACTASE PERSISTENCE
Key Variants
RS145946881
association
LACTASE PERSISTENCE, LACTASE PERSISTENCE
Health Risk
RS182549
association
LACTASE PERSISTENCE, LACTASE PERSISTENCE
Health Risk
RS41380347
association
LACTASE PERSISTENCE, LACTASE PERSISTENCE
Health Risk
RS41525747
association
LACTASE PERSISTENCE, LACTASE PERSISTENCE
Health Risk
RS4988235
association
LACTASE PERSISTENCE, LACTASE PERSISTENCE
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145946881 | Health Risk | association | LACTASE PERSISTENCE, LACTASE PERSISTENCE |
| RS182549 | Health Risk | association | LACTASE PERSISTENCE, LACTASE PERSISTENCE |
| RS41380347 | Health Risk | association | LACTASE PERSISTENCE, LACTASE PERSISTENCE |
| RS41525747 | Health Risk | association | LACTASE PERSISTENCE, LACTASE PERSISTENCE |
| RS4988235 | Health Risk | association | LACTASE PERSISTENCE, LACTASE PERSISTENCE |