CAMK1
Chr 3calcium/calmodulin dependent protein kinase I
Also known as: CAMKI
Calcium/calmodulin-dependent protein kinase I phosphorylates multiple substrates to regulate neuronal differentiation, neurite outgrowth, synaptic formation, and long-term potentiation in response to calcium influx. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been established. Given the critical role in early neuronal development and synaptic function, pathogenic variants would be expected to follow an autosomal dominant inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
CAMK1 · 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