CDK5R1
Chr 17cyclin dependent kinase 5 regulatory subunit 1
Also known as: CDK5P35, CDK5R, NCK5A, p23, p25, p35, p35nck5a
The CDK5R1 gene encodes p35, a neuron-specific activator of cyclin-dependent kinase 5 that is essential for neurite outgrowth, cortical lamination, and dendritic spine morphogenesis during central nervous system development. Mutations in CDK5R1 cause lissencephaly and cortical dysplasia-cryptogenic epilepsy syndrome, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function mutations, reflecting its critical role in 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 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
CDK5R1 · 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