EIF4A3
Chr 17AReukaryotic translation initiation factor 4A3
Also known as: DDX48, Fal1, MUK34, NMP265, NUK34, RCPS, eIF-4A-III, eIF4A-III
This gene encodes an ATP-dependent RNA helicase that functions as a core component of the exon junction complex (EJC), which regulates mRNA splicing, export, localization, translation efficiency, and nonsense-mediated decay. Biallelic loss-of-function mutations cause an autosomal recessive disorder characterized by Robin sequence with cleft mandible and limb anomalies. The pathogenic mechanism involves loss of normal EJC function, which disrupts multiple aspects of mRNA processing and is particularly critical for craniofacial development.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EIF4A3 · 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