MCM4 Gene

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.

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.

Diseases associated with MCM4 include the immunodeficiency syndrome"Immunodeficiency 54".

1. 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.
2. 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.
3. 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.
4. 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.