ADAMTS17
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 17
Gene Information Card
| Symbol | ADAMTS17 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 170691 ncbi.nlm.nih.gov/gene/170691 |
| Ensembl ID | ENSG00000140474 |
| UniProt ID | Q8TE56 |
| OMIM ID | 607511 |
| HGNC ID | 17109 |
| Aliases | ADAMTS17, ADAMTS-17, ADAMTS17A, ADAMTS17B |
Description
The ADAMTS17 gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of secreted metalloproteinases. This enzyme is involved in the assembly and maintenance of the extracellular matrix, particularly in the eye and connective tissues. Mutations in ADAMTS17 are associated with autosomal recessive Weill-Marchesani syndrome (WMS) and isolated ectopia lentis, likely due to disrupted microfibril formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Weill-Marchesani syndrome (WMS) | Loss-of-function mutations impair microfibril assembly, leading to short stature, brachydactyly, lens dislocation, and glaucoma. | OMIM #277600; ClinVar |
| Ectopia lentis, isolated | Defective ADAMTS17 disrupts zonular fiber integrity, causing lens dislocation without systemic features. | OMIM #225100; ClinVar |
| Glaucoma (secondary) | Lens dislocation and anterior segment dysgenesis increase intraocular pressure. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye | 5.2 | Medium |
| Lung | 3.8 | Low |
| Heart | 2.1 | Low |
| Skeletal muscle | 1.5 | Low |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 4.5 | Moderate expression |
| HUVEC (umbilical vein endothelial) | 3.0 | Low expression |
| HEK 293 (embryonic kidney) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2264G>A (p.Trp755*) | Nonsense | Rare | Loss of function; truncation of the protease domain |
| c.1330C>T (p.Arg444*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.2075_2076del (p.Glu692Glyfs*12) | Frameshift | Rare | Loss of function; disrupted catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function (nonsense, frameshift, splice-site), leading to reduced or absent ADAMTS17 activity and impaired microfibril assembly.
Gain of Function (GOF)
No gain-of-function mutations have been described for ADAMTS17.
Dominant Negative (DN)
No dominant-negative mutations have been reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix organization (GO:0030198) |
| • microfibril assembly (GO:0045104) | • extracellular space (GO:0005615) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Assembly of collagen fibrils and other multimeric structures (Reactome: R-HSA-2022090)
Protein Summary
ADAMTS17 is a secreted metalloproteinase composed of a signal peptide, a prodomain, a catalytic metalloproteinase domain, a disintegrin-like domain, a central thrombospondin type 1 repeat, and a C-terminal ancillary domain. It processes extracellular matrix components and is critical for the assembly of fibrillin microfibrils in the eye and connective tissues. Loss of function leads to Weill-Marchesani syndrome and ectopia lentis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS17 Knockout HEK293 Cell Line | EDJ-KQ12283 | Human | 170691 | Details Get a Quote |
| ADAMTS17 Knockout HCT 116 Cell Line | EDJ-KQ41088 | Human | 170691 | Details Get a Quote |
| ADAMTS17 Knockout HeLa Cell Line | EDJ-KQ58945 | Human | 170691 | Details Get a Quote |
| ADAMTS17 Knockout A-549 Cell Line | EDJ-KQ67433 | Human | 170691 | Details Get a Quote |
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