POLDIP3
Chr 22DNA polymerase delta interacting protein 3
Also known as: PDIP3, PDIP46, SKAR
The protein regulates translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs and enhances translational efficiency of spliced mRNAs. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), consistent with its role in fundamental cellular processes affecting neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
POLDIP3 · 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