PTRH1
Chr 9peptidyl-tRNA hydrolase 1 homolog
Also known as: C9orf115, PTH1
The protein functions as a peptidyl-tRNA hydrolase that cleaves nascent protein chains from stalled ribosomes and acts in the ribosome-associated quality control pathway. Mutations cause autosomal recessive infantile-onset mitochondrial disorders characterized by severe neurodegeneration, developmental delay, and multi-organ dysfunction. This gene is highly intolerant to loss-of-function variants, suggesting complete loss of function is likely pathogenic.
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
PTRH1 · 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