ADAMTS10
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 10
Gene Information Card
| Symbol | ADAMTS10 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 81794 ncbi.nlm.nih.gov/gene/81794 |
| Ensembl ID | ENSG00000142319 |
| UniProt ID | Q9H324 |
| OMIM ID | 608990 |
| HGNC ID | 1321 |
| Aliases | ADAMTS-10, MGC126518, MGC126520 |
Description
ADAMTS10 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of extracellular matrix proteases. The protein plays a critical role in microfibril assembly and stability, particularly involving fibrillin-1. Mutations in ADAMTS10 cause autosomal recessive Weill-Marchesani syndrome (WMS), characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia and glaucoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Weill-Marchesani syndrome (WMS) | Loss-of-function mutations impair microfibril assembly, leading to defective extracellular matrix in lens, joints, and connective tissue. | ClinVar, OMIM |
| Glaucoma (secondary to WMS) | Disorganized microfibrils in the anterior chamber angle obstruct aqueous humor outflow. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Heart | 4.1 | Low |
| Placenta | 3.8 | Low |
| Kidney | 2.9 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 3.0 | Low expression |
| HEK 293 (embryonic kidney) | 1.2 | Not detected |
| K562 (lymphoblast) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2173C>T (p.Arg725Ter) | Nonsense | Reported in WMS | Loss of function; premature termination |
| c.1526G>A (p.Arg509His) | Missense | Reported in WMS | Impaired protein folding/secretion |
| c.2389_2390del (p.Leu797ValfsTer8) | Frameshift | Reported in WMS | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most WMS-associated mutations (nonsense, frameshift, missense) lead to loss of proteolytic activity or secretion, disrupting microfibril assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix organization |
| • microfibril assembly | • proteolysis |
| • zinc ion binding | • extracellular region |
Pathways
• Fibrillin-1 microfibril assembly
• Extracellular matrix remodeling
Protein Summary
The ADAMTS10 protein is a secreted metalloprotease composed of a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, and multiple thrombospondin type 1 repeats. It localizes to the extracellular matrix and interacts with fibrillin-1 to promote microfibril formation. Loss of function leads to connective tissue abnormalities characteristic of Weill-Marchesani syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS10 Knockout HEK293 Cell Line | EDJ-KQ9747 | Human | 81794 | Details Get a Quote |
| ADAMTS10 Knockout A-549 Cell Line | EDJ-KQ36574 | Human | 81794 | Details Get a Quote |
| ADAMTS10 Knockout HCT 116 Cell Line | EDJ-KQ36575 | Human | 81794 | Details Get a Quote |
| ADAMTS10 Knockout HeLa Cell Line | EDJ-KQ36576 | Human | 81794 | Details Get a Quote |
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