PLPP7
Chr 9phospholipid phosphatase 7 (inactive)
Also known as: C9orf67, NET39, PPAPDC3
The protein acts as a negative regulator of myoblast differentiation through effects on MTOR signaling and is located in the endoplasmic reticulum membrane and nucleus. Mutations in PLPP7 cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in infancy or early childhood. This gene affects neurodevelopment and muscle differentiation pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
PLPP7 · 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 →No open access results found
External Resources
Links to major genomics databases and tools