SLURP1
Chr 8ARsecreted LY6/PLAUR domain containing 1
Also known as: ANUP, ARS, ArsB, LY6-MT, LY6LS, MDM
This protein maintains the physiological and structural integrity of keratinocyte layers in the skin and modulates nicotinic acetylcholine receptor activity to regulate keratinocyte proliferation and differentiation. Mutations cause Meleda disease, a rare autosomal recessive skin disorder characterized by palmoplantar keratoderma. The gene shows relatively low constraint against loss-of-function variants (pLI 0.26, LOEUF 1.31), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
SLURP1 · 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