LRP4
Chr 11ARADLDL receptor related protein 4
Also known as: CLSS, CMS17, LRP-4, LRP10, MEGF7, SOST2
This protein functions as a member of the low-density lipoprotein receptor family and regulates Wnt signaling from the cell membrane. Mutations cause Cenani-Lenz syndactyly syndrome and sclerosteosis 2 through autosomal recessive inheritance, and congenital myasthenic syndrome type 17 through autosomal dominant inheritance. The pathogenic mechanism involves gain-of-function effects.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LRP4 · 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