PRORP
Chr 14ARprotein only RNase P catalytic subunit
Also known as: COXPD54, KIAA0391, MRPP3
This protein serves as the catalytic ribonuclease component of mitochondrial ribonuclease P, which cleaves the 5' ends of mitochondrial tRNA molecules as part of tRNA processing. Biallelic mutations cause combined oxidative phosphorylation deficiency 54, an autosomal recessive mitochondrial disorder affecting cellular energy production. The gene shows relaxed constraint against loss-of-function variants (LOEUF 1.222), and a comprehensive clinical review is available in GeneReviews.
Definitive — sufficient evidence for diagnostic panels
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
PRORP · 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