MEI1

Chr 22AR

meiotic double-stranded break formation protein 1

NCBI Gene: 150365ENSG00000167077UniProt: Q5TIA1

Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity)

Primary Disease Associations & Inheritance

Hydatidiform mole, recurrent, 3MIM #618431
AR
271
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MEI1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
271 total variants — no pathogenic classifications of 271 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.64LOEUF
pLI 0.000
Z-score 3.95
OE 0.47 (0.35–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.87Z-score
OE missense 0.91 (0.85–0.97)
608 obs / 671.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.47 (0.35–0.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.85–0.97)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.99
0≤1.21.6
LoF obs/exp: 30 / 64.1Missense obs/exp: 608 / 671.6Syn Z: 0.13

ClinVar Variant Classifications

271 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

MEI1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Hydatidiform mole, recurrent, 3

MIM #618431

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Malcher A et al.·Andrology
2022
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
Ding X et al.·Proc Natl Acad Sci U S A
2023
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.
Zhang Y et al.·J Hum Genet
2023
Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure.
Wu X et al.·Mol Genet Genomics
2024
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.·Bioessays
2022Review
A chemokine-based prognostic model featuring CXCL8, ITGA5, BACE2, CCR7, CERS4, and MEI1 for cervical cancer.
Wang L et al.·Eur J Med Res
2025Functional
Identification of the novel homozygous whole exon deletion in MEI1 underlying azoospermia and embryonic arrest in one consanguineous family.
Liu B et al.·Reprod Sci
2025Case report
Machine learning-based integration identifies plasma cells-related gene signature ST6GAL1 in idiopathic pulmonary fibrosis.
Lin F et al.·BMC Pulm Med
2025
Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.
Dong J et al.·Hum Reprod
2021
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.
Sato H et al.·J Hum Genet
2006
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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