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MCM4

Chr 8q11.21

minichromosome maintenance complex component 4

Aliases:
CDC54, hCdc21, P1-Cdc21, MGC33310
MANE:
ENST00000649973.1

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Congenital adrenal hypoplasia

Disease associations (Open Targets)

  • Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

    0.71
  • primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

    0.65
  • Cytomegalic congenital adrenal hypoplasia

    0.18
  • microcephaly

    0.11
  • hepatocellular carcinoma

    0.10
  • non-small cell lung carcinoma

    0.10
  • cancer

    0.09
  • breast cancer

    0.09
  • breast carcinoma

    0.08
  • melanoma

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA replication licensing factor MCM4

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. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:16899510, PubMed:25661590, PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232, PubMed:9305914). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:16899510, PubMed:25661590, PubMed:32453425, PubMed:9305914)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.