TPRKB
Chr 2ARTP53RK binding protein
Also known as: CGI-121, CGI121, GAMOS5
TPRKB encodes a component of the EKC/KEOPS complex that modifies tRNAs by adding threonylcarbamoyl groups to specific adenosine residues, acting as an allosteric regulator of this tRNA modification process. Biallelic mutations cause Galloway-Mowat syndrome 5, an autosomal recessive disorder characterized by nephrotic syndrome and microcephaly with developmental delays. The gene shows tolerance to loss-of-function variants (LOEUF 1.3), indicating that complete loss of function may be required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TPRKB · 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