ADAMTS2

A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase (PC I-NP) is an is_associated_with::enzyme that in humans is encoded by the ADAMTS2 is_associated_with::gene.

Gene
The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminus) of the arm, from is_associated_with::base pair 178,473,473 to base pair 178,704,934.

Function
ADAMTS2 is responsible for processing several types of is_associated_with::procollagen is_associated_with::proteins. Procollagens are the precursors of is_associated_with::collagens, the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of is_associated_with::amino acids off one end of the procollagen. This clipping step is necessary for collagen molecules to function normally and assemble into fibrils outside cells.

Clinical significance
is_associated_with::Ehlers-Danlos syndrome, dermatosparaxis type is caused by is_associated_with::mutations in the ADAMTS2 gene. Several mutations in the ADAMTS2 gene have been identified in people with this syndrome. These mutations greatly reduce the production of the enzyme made by the ADAMTS2 gene. Procollagen cannot be processed correctly without this enzyme. As a result, 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 (the tissue that binds and supports the body's muscles, ligaments, organs, and skin), which causes the signs and symptoms of the disorder.