The ADAMTS(L) family and human genetic disorders
Carine Le Goff1, Valérie Cormier-Daire
1Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Tour Lavoisier, 149 rue de Sèvres, Paris, France. carine.le-goff@inserm.fr
Abstract:
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 previously been 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 was to emphasize the role of this family in the extracellular matrix based on human phenotypes so far identified in relation with ADAMTS(L) mutations.
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