LRRC26
Chr 9leucine rich repeat containing 26
Also known as: CAPC, bA350O14.10
The protein is an auxiliary subunit of large-conductance calcium and voltage-activated potassium (BK) channels that converts BK alpha channels from high-voltage to low-voltage activation in non-excitable cells. Mutations in this gene cause autosomal recessive epileptic encephalopathy with developmental delay and seizures typically beginning in infancy or early childhood. The gene shows low constraint to loss-of-function variation (pLI 0.01, LOEUF 1.68), suggesting tolerance to protein-truncating variants.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
LRRC26 · 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
External Resources
Links to major genomics databases and tools