ARSL
Chr XXLRarylsulfatase L
Also known as: ARSE, ASE, CDPX, CDPX1, CDPXR
Arylsulfatase E localizes to the Golgi apparatus and exhibits arylsulfatase activity essential for correct cartilage and bone matrix composition during development. Mutations cause X-linked recessive chondrodysplasia punctata, characterized by abnormalities in cartilage and bone development. The pathogenic mechanism involves loss of function leading to defective sulfatase activity required for proper skeletal matrix formation.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
ARSL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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