EIF5A
Chr 17ADeukaryotic translation initiation factor 5A
Also known as: EIF-5A, EIF5A1, FABAS, eIF-4D, eIF5AI
EIF5A encodes a translation factor that promotes ribosome rescue when stalled at specific amino acid sequences, particularly polyproline motifs, and regulates apoptosis and autophagy. Mutations cause Faundes-Banka syndrome with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.543), suggesting intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
89 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 3 | 26 | 0 | 31 |
Likely Pathogenic | 5 | 4 | 3 | 0 | 12 |
VUS | 3 | 18 | 7 | 0 | 28 |
Likely Benign | 0 | 1 | 1 | 4 | 6 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 10 | 26 | 38 | 4 | 78 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF5A · 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
Study of AMXT 1501 and DFMO in Combination With Standard Therapies in Advanced Solid Tumors
RECRUITINGVITAL: Vaccination, Immunity, Time-restricted Eating, Aging and Lifestyle
RECRUITINGExternal Resources
Links to major genomics databases and tools