MCM10

Chr 10AR

minichromosome maintenance 10 replication initiation factor

Also known as: CNA43, DNA43, IMD80, PRO2249

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 80 with or without cardiomyopathyMIM #619313
AR

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency 80 with or without congenital cardiomyopathy · ARModerateconsider for supplementary testing
0
Active trials
30
Pubs (1 yr)
P/LP submissions
P/LP missense
0.84
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.000
Z-score 2.48
OE 0.62 (0.470.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.17Z-score
OE missense 1.02 (0.951.10)
496 obs / 485.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.470.84)
00.351.4
Missense OE?1.02 (0.951.10)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 31 / 49.9Missense obs/exp: 496 / 485.6Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MCM10 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →