GUF1
Chr 4ARGTP binding elongation factor GUF1
Also known as: DEE40, EF-4, EF4, EIEE40
GUF1 encodes a mitochondrial GTPase that promotes protein synthesis by ensuring translation fidelity through catalyzing backward translocation of tRNAs on improperly positioned ribosomes. Mutations cause developmental and epileptic encephalopathy 40 with early infantile onset through autosomal recessive inheritance. The gene is extremely intolerant to loss-of-function variants, indicating it is essential for normal cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GUF1 · 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