The ADAMTS (L) family and Human Genetic Disorders

g.oxfordjournals.org/ D ow nloaded from 2 ADAMTS designates a family of 19 secreted enzymes, whose the first member ADAMTS1 was described in 1997. The ADAMTS family has a role in extracellular matrix degradation and turn over and has been previously involved in various human biological processes including connective tissue structure, cancer, coagulation, arthritis, angiogenesis and cell migration. More recently the ADAMTS(L) family has been described, sharing the same ancillary domain but distinct by the absence of any enzyme activity. Mutations in ADAMTS13, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 have been identified in distinct human genetic disorders ranging from thrombotic thrombocytopenic purpura to Acromelic dysplasia. The aim of our review is to emphasize the role of this family in the extracellular matrix based on human phenotypes so far identified in relation with ADAMTS(L) mutations. at Pennsylvania State U niversity on Septe