A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase (PC I-NP) is an
enzyme that in humans is encoded by the ''ADAMTS2''
gene.
Gene
The ADAMTS2 gene is located on the long (q) arm of
chromosome 5 at the end (terminus) of the arm, from
base pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...
178,473,473 to base pair 178,704,934.
Function
ADAMTS2 is responsible for processing several types of
procollagen proteins. Procollagens are the precursors of
collagen
Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ...
s, the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of
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
Ehlers-Danlos syndrome, dermatosparaxis type is caused by
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.
See also
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ADAMTS5
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ADAMTS13
References
Further reading
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External links
GeneCard* The
MEROPS online database for peptidases and their inhibitors
M12.301*
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EC 3.4.24
ADAMTS