MCM9

Chr 6

minichromosome maintenance 9 homologous recombination repair factor

Also known as: C6orf61, MCMDC1, ODG4, dJ329L24.1, dJ329L24.3

NCBI Gene: 254394ENSG00000111877UniProt: Q9NXL9

The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOvarian dysgenesis 4

Clinical highlights

Gene-disease validity (ClinGen)
MCM9-related gametogenic failure · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
DN
Mechanism· predicted
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GeneReview available — MCM9
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.24
OE 0.64 (0.47–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.45Z-score
OE missense 0.83 (0.77–0.90)
493 obs / 592.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.47–0.87)
0≤0.351.4
Missense OE?0.83 (0.77–0.90)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 28 / 44.0Missense obs/exp: 493 / 592.5Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MCM9 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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