MCM6
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | minichromosome maintenance complex component 6 |
| EntrezGene | 4175 |
| PheGenI | 4175 |
| VariationViewer | 4175 |
| ClinVar | MCM6 |
| GeneCards | MCM6 |
| dbSNP | 4175 |
| Diseases | MCM6 |
| SADR | 4175 |
| HugeNav | 4175 |
| wikipedia | MCM6 |
| MCM6 | |
| gopubmed | MCM6 |
| EVS | MCM6 |
| HEFalMp | MCM6 |
| MyGene2 | MCM6 |
| 23andMe | MCM6 |
| UniProt | Q14566 |
| Ensembl | ENSG00000076003 |
| OMIM | 601806 |
| # SNPs | 9 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs145946881 | 0 | 135,851,176 | |
| rs182549 | 2 | 135,859,184 | |
| rs309180 | 0 | 135,856,685 | |
| rs3754686 | 0 | 135,845,706 | |
| rs41380347 | 2.5 | 135,851,081 | Lactase persistence, also known as "-13915*G" common in Arab populations |
| rs41525747 | 0 | 135,851,073 | |
| rs4988234 | 0 | 135,851,103 | |
| rs4988235 | 2.5 | 135,851,076 | |
| rs869051967 | 0 | 135,851,175 |
The MCM6 gene encodes the protein DNA replication licensing factor MCM6, one of the highly conserved minichromosome maintenance complex proteins that are essential for the initiation of eukaryotic genome replication.
MCM6 contains two of the regulatory regions for LCT, the gene encoding the protein lactase, located in two of the nearby MCM6 introns, rs182549 and rs4988235, approximately 14 kb (-13910) and 22 kb (-22018) upstream of LCT. The (-13910) region, have been shown to function in vitro as an enhancer element capable of differentially activating transcription of LCT promoter. Mutations in these regions are frequently associated with lactose tolerance into adult life.
