EIF1AX
Chr Xeukaryotic translation initiation factor 1A X-linked
Also known as: EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C
This gene encodes eukaryotic translation initiation factor 1A-X, an essential protein required for ribosome binding to mRNA and start codon recognition during protein synthesis. Mutations cause X-linked intellectual disability with variable features including developmental delay, seizures, and growth abnormalities. The gene is highly constrained against loss-of-function variants, and inheritance follows an X-linked pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
139 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 71 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 9 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 2 |
| Total | — | 87 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF1AX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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