PLK1
Chr 16polo like kinase 1
Also known as: PLK, STPK13
PLK1 encodes a serine/threonine kinase that regulates multiple critical functions during mitosis including centrosome maturation, spindle assembly, chromosome cohesion, and cytokinesis. Mutations in PLK1 cause an autosomal dominant neurodevelopmental disorder characterized by microcephaly, intellectual disability, and seizures with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are insufficient for normal development.
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
PLK1 · 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