MCM4 encodes minichromosome maintenance complex component 4 (863 aa). Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Highest expression in Cells EBV-transformed lymphocytes (117.5 TPM) and Testis (56.9 TPM).

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency has been associated with mutations in the MCM4 gene on chromosome 8.

The MCM4 protein participates in MCM4, MCM6 and MCM7 form a heterotrimer and Mcm4,6,7 trimer forms and associates with the replication fork pathways.

MCM4 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Genetic testing for MCM4 is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 4 always present features, 3 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency.

5 publications have been identified in PubMed for primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency. Research spans Review / Meta-Analysis (25%), Clinical Trial Publication (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Salahi-Niri A (2025). [PMID: 40201702](https://pubmed.ncbi.nlm.nih.gov/40201702/). *Health Sci Rep*. [Review / Meta-Analysis]

• Seo S (2025). [PMID: 40768335](https://pubmed.ncbi.nlm.nih.gov/40768335/). *Cell Rep*. [Basic Science / Preclinical]

• Atar M (2025). [PMID: 39713889](https://pubmed.ncbi.nlm.nih.gov/39713889/). *J Clin Res Pediatr Endocrinol*. [Epidemiology / Natural History]

• Moral Moral P (2024). [PMID: 39902048](https://pubmed.ncbi.nlm.nih.gov/39902048/). *Front Immunol*. [Clinical Trial Publication]