LRRC42
Chr 1leucine rich repeat containing 42
Also known as: dJ167A19.4
This protein is a leucine-rich repeat containing protein with unknown specific function. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting ciliary motility that presents with chronic respiratory tract infections, bronchiectasis, and often situs inversus. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LRRC42 · 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