PNPT1
Chr 2ARADpolyribonucleotide nucleotidyltransferase 1
Also known as: COXPD13, DFNB70, OLD35, PNPASE, SCA25, old-35
The encoded protein is a 3'-to-5' exoribonuclease that localizes to the mitochondrial intermembrane space and facilitates RNA import into mitochondria. Mutations cause autosomal recessive combined oxidative phosphorylation deficiency-13, autosomal recessive nonsyndromic deafness (DFNB70) with or without adult-onset neurodegeneration, and autosomal dominant spinocerebellar ataxia 25. The pathogenic mechanism involves disrupted mitochondrial RNA processing and degradation leading to impaired oxidative phosphorylation.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PNPT1 · 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