ADAMTS Like 4
ADAMTS Like 4 (ADAMTSL4) is a secreted, catalytically inactive matrix protein whose clinical significance lies in ocular genetics. Biallelic mutations in ADAMTSL4 cause isolated ectopia lentis and the ectopia lentis et pupillae phenotype, disorders in which the lens is displaced because zonular fibers are weakened. The protein associates with fibrillin-1 microfibrils, which form the core of the ciliary zonules, and expression is documented in eye, heart and skeletal tissues. Recombinant ADAMTSL4 is consequently a focused reagent for fibrillin microfibril assembly and heritable lens-displacement research. Inheritance is autosomal recessive, and ADAMTSL4 variants represent a leading cause of isolated ectopia lentis without systemic features, distinguishing them from fibrillin-1 disorders that affect multiple organ systems.
