EIF3M
Chr 11eukaryotic translation initiation factor 3 subunit M
Also known as: B5, GA17, PCID1, TANGO7, hfl-B5
The protein is a component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is essential for multiple steps in protein synthesis initiation, including ribosome assembly, mRNA recruitment, and translation of specific mRNAs involved in cell proliferation and apoptosis. Mutations cause neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.607), consistent with early-onset developmental abnormalities when both copies are disrupted.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EIF3M · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools