LYPD6
Chr 2LY6/PLAUR domain containing 6
LYPD6 encodes a protein that modulates nicotinic acetylcholine receptor function in the brain, specifically inhibiting alpha-3:beta-4 and alpha-7 receptor currents in an allosteric manner. Mutations cause autosomal recessive intellectual disability with seizures and language delay. The gene shows low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LYPD6 · 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