PDPK1
Chr 163-phosphoinositide dependent protein kinase 1
Also known as: PDK1, PRO0461
The protein encoded by this gene is a master serine/threonine kinase that phosphorylates and activates multiple AGC family kinases including AKT, playing a central role in insulin signaling and controlling cell proliferation, survival, glucose uptake, and cardiac homeostasis. Mutations cause a neurodevelopmental disorder with early infantile epileptic encephalopathy and focal cortical dysplasia, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.29), indicating intolerance to haploinsufficiency in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
PDPK1 · 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