MCM8

Chr 20p12.3

minichromosome maintenance 8 homologous recombination repair factor

Aliases:: MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5
MANE:: ENST00000610722.4

OMIM: 608187 ↗NCBI: 84515 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MCM8 · Q9UJA3

v62025-08-01

Predicted Aligned Error matrix for MCM8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.5/ 100

Confident

840 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)54%
Low(50–70)10%
Very low(< 50)16%

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

Disease associations (Open Targets)

uterine corpus leiomyoma
0.51
primary ovarian failure
0.51
Uterine leiomyoma
0.47
menopause
0.43
Menorrhagia
0.43
breast carcinoma
0.35
Raynaud disease
0.34
estrogen-receptor negative breast cancer
0.34
estrogen-receptor positive breast cancer
0.34
ovulation
0.34

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

Protein function (UniProt)

DNA helicase MCM8

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). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). May play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) (PubMed:15684404). Facilitates somatic mitochondrial (mt)DNA recombination (PubMed:36355348). Plays a key role during gametogenesis, probably by regulating HR (By similarity). Stabilizes MCM9 protein (PubMed:23401855, PubMed:26215093)