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NEDTCHAL
Chr 8AReukaryotic translation elongation factor 1 delta
Also known as: EF-1D, EF1D, FP1047, NEDTCHAL
The protein functions as a guanine nucleotide exchange factor within the elongation factor-1 complex, facilitating the enzymatic delivery of aminoacyl tRNAs to ribosomes during protein synthesis. Biallelic mutations cause a neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, inherited in an autosomal recessive pattern. This condition affects the central nervous system with notable structural brain abnormalities and severe developmental impairment including lack of speech development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDTCHAL?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDTCHAL · 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 publications found for NEDTCHAL
External Resources
Links to major genomics databases and tools