MCM9

Chr 6q22.31

minichromosome maintenance 9 homologous recombination repair factor

Aliases:: MGC35304, dJ329L24.3, FLJ20170
MANE:: ENST00000619706.5

OMIM: 610098 ↗NCBI: 254394 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MCM9 · Q9NXL9

v62025-08-01

Predicted Aligned Error matrix for MCM9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.9/ 100

Low

1,143 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)38%
Low(50–70)5%
Very low(< 50)43%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

46,XX gonadal dysgenesis
0.69
neurodegenerative disease
0.52
premature ovarian failure 1
0.42
mathematical ability
0.30
ovarian dysfunction
0.29
hypothyroidism
0.27
tooth disorder
0.22
actinic keratosis
0.21
placental abruption
0.21
male reproductive organ cancer
0.21

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

Protein function (UniProt)

DNA helicase MCM9

Component of the MCM8-MCM9 complex, which is involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). The MCM8-MCM9 complex is a 3'-5' DNA helicase and single-stranded (ss)DNA-stimulated ATPase which binds ssDNA in the presence of nucleoside triphosphates (PubMed:37309874). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs, probably by regulating the localization of the MNR complex (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Plays a key role during gametogenesis, probably by regulating HR (By similarity)