PPP4C
Chr 16protein phosphatase 4 catalytic subunit
Also known as: PP-X, PP4, PP4C, PPH3, PPP4, PPX
Protein phosphatase 4 catalytic subunit dephosphorylates target proteins involved in DNA repair, cell cycle regulation, and chromatin organization. Mutations cause autosomal recessive neurodevelopmental disorder with early-onset seizures, intellectual disability, and microcephaly. This gene shows high constraint against loss-of-function variants (LOEUF 0.489), indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
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
PPP4C · 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