ADAMTS2: A gene that encodes a metalloproteinase enzyme. This enzyme is responsible for processing type I, type II, and type V procollagen proteins. Procollagens are the precursors of collagens, the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of amino acids off of one end of the procollagen. The clipping step is necessary for proper assembly and function of collagen molecules.
Mutations in the ADAMTS2 gene have been identified in patients with Ehlers-Danlos syndrome, dermatosparaxis type. These mutations greatly reduce the production of the enzyme made by ADAMTS2. Procollagen cannot be processed correctly without this enzyme. As a result, type I collagen fibrils are not assembled properly; they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also affected. These defects weaken connective tissue, particularly in the skin, which causes the symptoms of the disorder.
The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminal) of the arm. ADAMTS2 stands for A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 2.
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