The MCM4 gene (MCM4 stands for "Minichromosome Maintenance Complex Component 4") is a protein-coding gene located on chromosome 8q11.21. Alternatively spliced transcript variants encoding the same protein are known.
MCM4 Gene
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The protein encoded by the MCM4 gene is one of the highly conserved mini-chromosome maintenance proteins (MCMs) that are essential for 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 may be involved in replication fork formation and recruitment of other DNA replication-related proteins.
The MCM complex, which consists of this protein and the MCM2, 6, and 7 proteins, has DNA helicase activity and functions as a DNA unwinding enzyme. Phosphorylation of this protein by CDC2 kinase reduces DNA helicase activity and chromatin binding of the MCM complex.
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Diseases associated with MCM4 include the immunodeficiency syndrome"Immunodeficiency 54".
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- Casey JP et al (2021) Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. J Med Genet 49: 242-245.
- Eidenschenk C et al (2006) A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. Am J Hum Genet 78: 721-727.
- Gineau L et al (212) Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest 122: 821-832.
- Hughes CR et al (2012) MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest 122: 814-820.