ELAVL4
Chr 1ELAV like RNA binding protein 4
Also known as: HUD, PNEM
This protein binds to and stabilizes mRNAs involved in neuronal development and function, particularly through binding to AU-rich elements in 3' untranslated regions of target transcripts. Mutations cause autosomal recessive late-onset distal myopathy affecting skeletal muscle, typically presenting in adulthood. The gene is highly constrained against loss-of-function variants, indicating it is essential for normal cellular function.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ELAVL4 · 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