EEF2KMT
Chr 16eukaryotic elongation factor 2 lysine methyltransferase
Also known as: EFM3, FAM86A, SB153, eEF2-KMT
EEF2KMT encodes a protein-lysine methyltransferase that catalyzes trimethylation of eukaryotic elongation factor 2 on lysine-525, regulating protein synthesis. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, inherited in an autosomal recessive pattern. The gene shows extreme intolerance to loss-of-function variants, indicating its critical role in normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EEF2KMT · 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 →No open access results found
External Resources
Links to major genomics databases and tools