KCNAB3
Chr 17potassium voltage-gated channel subfamily A regulatory beta subunit 3
Also known as: AKR6A9, KCNA3.1B, KCNA3B, KV-BETA-3
This gene encodes a beta subunit that regulates voltage-gated potassium channels, particularly by increasing inactivation of Kv1.5 channels and potentially mediating channel closure. Mutations cause early infantile epileptic encephalopathy, characterized by seizures beginning in infancy with severe developmental impairment. The condition follows an autosomal dominant inheritance pattern, and the gene shows extreme constraint against loss-of-function variants (pLI near 1.0).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
KCNAB3 · 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