ADAMTSL4 : ADAMTS like 4
ADAMTSL4: The Building Block of Tissue Support
Description:
The ADAMTSL4 gene encodes a protein essential for the integrity of connective tissues throughout the body. This protein, aptly named ADAMTSL4, plays a crucial role in the extracellular matrix (ECM), a meshwork of molecules that supports and connects cells.
Associated Diseases:
Mutations in the ADAMTSL4 gene are linked to a rare disorder called Weill-Marchesani syndrome (WMS). WMS is characterized by a constellation of symptoms, including:
- Short stature
- Joint stiffness
- Ocular complications (e.g., lens dislocation)
- Cardiovascular abnormalities
Did you Know ?
ADAMTSL4 deficiency accounts for approximately 30% of WMS cases.
