CLPP
Chr 19ARcaseinolytic mitochondrial matrix peptidase proteolytic subunit
Also known as: DFNB81, PRLTS3
The encoded protease functions as part of the mitochondrial ClpXP complex to degrade proteins and peptides in an ATP-dependent manner, serving essential housekeeping functions within mitochondria. Biallelic mutations cause Perrault syndrome 3, an autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysgenesis in females. The gene shows significant constraint against loss-of-function variants (LOEUF 0.565), indicating intolerance to haploinsufficiency in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
CLPP · 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