ADAMTS10
ADAMTS10 is a fibrillin-associated ADAMTS enzyme that functions as a scaffold rather than a major proteoglycanase. It co-localizes and interacts with fibrillin-1 and fibrillin-2 in extracellular microfibrils, supporting the assembly and integrity of these elastic-fiber precursors. Biallelic mutations in ADAMTS10 cause Weill-Marchesani syndrome, an autosomal recessive condition combining short stature, lens dislocation and stiff joints, which highlights its importance in connective tissue architecture. Expression is prominent in skin, cartilage and other microfibril-rich tissues, and recombinant ADAMTS10 is used in fibrillin microfibril and heritable connective tissue disorder research. Pathogenic mutations are distributed across the metalloprotease and C-terminal domains, and the resulting syndrome illustrates how microfibril-organization defects produce syndromic short stature and lens dislocation.
