ADAMTS17
Chr 15ARADAM metallopeptidase with thrombospondin type 1 motif 17
The protein is a metalloproteinase that cleaves extracellular matrix components and is highly intolerant to loss-of-function variants (LOEUF 0.732). Biallelic mutations cause Weill-Marchesani syndrome type 4, characterized by ocular abnormalities including ectopia lentis, spherophakia, glaucoma, and lenticular myopia, along with short stature. This follows autosomal recessive inheritance.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
ADAMTS17 · 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