PPTC7
Chr 12protein phosphatase targeting COQ7
Also known as: TA-PP2C, TAPP2C
This mitochondrial protein phosphatase regulates coenzyme Q biosynthesis and mitophagy by dephosphorylating key enzymes and mitophagy receptors. Mutations cause autosomal recessive mitochondrial disease with early-onset encephalopathy, developmental delay, and multisystem involvement. The gene is highly constrained against loss-of-function variants, reflecting its essential role in mitochondrial metabolism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PPTC7 · 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