MCM5 Chromosome 22
Minichromosome maintenance complex component 5
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What This Gene Does
The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MCM family|minichromosome maintenance 2-7 complex"
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100297
Associated Conditions (1)
Meier-Gorlin syndrome 8
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149737572 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1131692169 | Health Risk | Pathogenic | Meier-Gorlin syndrome 8, Meier-Gorlin syndrome 8 |