GTPBP1
Chr 22ARGTP binding protein 1
Also known as: GP-1, GP1, HSPC018, NEDFET1
GTPBP1 encodes a GTPase that delivers aminoacyl-tRNAs to ribosomes during protein synthesis and promotes degradation of faulty mRNAs through RNA quality control mechanisms. Autosomal recessive mutations cause neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis. The gene is highly constrained against loss-of-function variants, indicating that functional GTPBP1 protein is essential for normal cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GTPBP1 · 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