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.