ELP1
Chr 9ADARSomaticelongator acetyltransferase complex subunit 1
Also known as: DYS, FD, IKAP, IKBKAP, IKI3, TOT1
ELP1 encodes a scaffold protein that is a component of the elongator complex required for tRNA modifications and also assembles active kinase complexes involved in proinflammatory signaling. Mutations cause familial dysautonomia, a severe neurodevelopmental disorder affecting the autonomic nervous system, and are also associated with medulloblastoma. The gene follows autosomal recessive inheritance for familial dysautonomia and shows high constraint against loss-of-function variants (LOEUF 0.735).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ELP1 · 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