NBEAL1
Chr 2neurobeachin like 1
Also known as: A530083I02Rik, ALS2CR16, ALS2CR17
The NBEAL1 protein binds to protein kinases and is involved in protein localization within the cytosol and membrane compartments. Mutations cause autosomal recessive developmental delays, intellectual disability, and seizures with onset typically in early childhood. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NBEAL1 · 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