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.
M utations 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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