MCM7 Chromosome 7
Minichromosome maintenance complex component 7
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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 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|MCM family|MicroRNA protein coding host genes|minichromosome maintenance 2-7 complex"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000166508
Associated Conditions (2)
Meier-Gorlin syndrome
9 conditions
Key Variants
RS2307347
Conflicting classifications of pathogenicity
Health Risk
RS1054083917
Pathogenic
Meier-Gorlin syndrome, Meier-Gorlin syndrome
Health Risk
RS758105856
Pathogenic
Meier-Gorlin syndrome, 9 conditions, Meier-Gorlin syndrome
Health Risk
RS76705400
Pathogenic
Meier-Gorlin syndrome, Meier-Gorlin syndrome
Health Risk
RS778583017
Pathogenic
Meier-Gorlin syndrome, Meier-Gorlin syndrome
Health Risk
RS934444258
Pathogenic
9 conditions, 9 conditions
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2307347 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1054083917 | Health Risk | Pathogenic | Meier-Gorlin syndrome, Meier-Gorlin syndrome |
| RS758105856 | Health Risk | Pathogenic | Meier-Gorlin syndrome, 9 conditions, Meier-Gorlin syndrome |
| RS76705400 | Health Risk | Pathogenic | Meier-Gorlin syndrome, Meier-Gorlin syndrome |
| RS778583017 | Health Risk | Pathogenic | Meier-Gorlin syndrome, Meier-Gorlin syndrome |
| RS934444258 | Health Risk | Pathogenic | 9 conditions, 9 conditions |