GTPBP6
Chr YGTP binding protein 6
Also known as: PGPL
This gene encodes a GTP binding protein located in the pseudoautosomal region of the X and Y chromosomes and is extremely intolerant to loss-of-function variants (pLI ~1). Mutations cause neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed puberty, with an X-linked inheritance pattern affecting primarily males but with potential for affected females due to the pseudoautosomal location.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
GTPBP6 · 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