MCM6

Chr 2AD

minichromosome maintenance complex component 6

NCBI Gene: 4175ENSG00000076003UniProt: Q14566OMIM: 601806

The MCM6 protein functions as a core component of the MCM2-7 replicative helicase complex that is essential for DNA replication initiation and elongation in eukaryotic cells. Mutations cause autosomal dominant lactase persistence/nonpersistence, which affects lactose tolerance rather than representing a typical neurogenetic disorder. This gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.31), suggesting that severe mutations would likely cause more significant developmental consequences than the lactase phenotype currently described.

OMIMResearchSummary from OMIM, UniProt
ADLOEUF 0.311 OMIM phenotype
Clinical Summary— MCM6
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.31LOEUF
pLI 0.978
Z-score 5.05
OE 0.16 (0.09–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.07Z-score
OE missense 0.86 (0.79–0.93)
390 obs / 454.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.16 (0.09–0.31)
0≤0.351.4
Missense OE0.86 (0.79–0.93)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 7 / 42.6Missense obs/exp: 390 / 454.0Syn Z: 0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MCM6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Frequency and Diagnostic Utility of the -13910C>T MCM6 Gene Polymorphism for Lactose Intolerance in a Brazilian Northeast Population.
DE Morais GP et al.·In Vivo
2026Open Access
Targeting MCM6 Enhances Melphalan Chemosensitivity in Retinoblastoma by Modulating DNA Damage Response.
Wang M et al.·Invest Ophthalmol Vis Sci
2025Open Access
Antiparasitic agent emodepside exerts cytotoxicity in human corneal stromal cells by blocking the interaction between mini-chromosome maintenance 6 protein (MCM6) and chromatin licensing and DNA replication factor 1 (CDT1).
Gao H et al.·Toxicology
2026
Analysis of the prognostic and immune role of MCM6 in pan-cancer and experimental validation in lung adenocarcinoma cells.
Liao M et al.·Sci Rep
2025Open Access
Roles of MARCKSL1, MCM6, RFC4, and PLAU genes in esophageal cancer and their association with radiotherapy response.
Zeng B et al.·Sci Rep
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients