MCM10 Chromosome 10
Minichromosome maintenance 10 replication initiation 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 involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Immunodeficiency 80 with or without congenital cardiomyopathy
Fetal Cardiomyopathy
Key Variants
RS2131558198
Pathogenic
Immunodeficiency 80 with or without congenital cardiomyopathy, Fetal Cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy
Health Risk
RS2131579842
Pathogenic
Immunodeficiency 80 with or without congenital cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy
Health Risk
RS746874909
Pathogenic
Immunodeficiency 80 with or without congenital cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy
Health Risk
RS781204418
Pathogenic
Immunodeficiency 80 with or without congenital cardiomyopathy, Fetal Cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2131558198 | Health Risk | Pathogenic | Immunodeficiency 80 with or without congenital cardiomyopathy, Fetal Cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy |
| RS2131579842 | Health Risk | Pathogenic | Immunodeficiency 80 with or without congenital cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy |
| RS746874909 | Health Risk | Pathogenic | Immunodeficiency 80 with or without congenital cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy |
| RS781204418 | Health Risk | Pathogenic | Immunodeficiency 80 with or without congenital cardiomyopathy, Fetal Cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy |