ADAMTS2 is a gene that provides instructions for making an enzyme called a disintegrin and metalloproteinase with thrombospondin motifs 2. This enzyme plays a role in the breakdown of various proteins in the extracellular matrix, which is the network of molecules that provides structural support to tissues and organs in the body. ADAMTS2 is particularly important in the formation and maintenance of connective tissue such as skin, tendons, and cartilage.
Mutations in the ADAMTS2 gene have been associated with a rare genetic disorder called Ehlers-Danlos syndrome, dermatosparaxis type. This condition is characterized by extremely fragile and elastic skin, joint hypermobility, and a tendency to develop hernias and other abnormalities of connective tissue. The mutations in the ADAMTS2 gene result in decreased or absent activity of the enzyme, which impairs the normal processing of several types of collagen, a major component of connective tissue. This leads to the characteristic features of the disorder.
Research is ongoing to better understand the function of ADAMTS2 and its role in connective tissue disorders.
