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ADAMTS2



ADAM metallopeptidase with thrombospondin type 1 motif, 2
Identifiers
Symbol ADAMTS2
Entrez 9509
HUGO 218
OMIM 604539
RefSeq NM_014244
UniProt O95450
Other data
Locus Chr. 5 q23-q24

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif, 2) is a gene that produces an enzyme that is responsible for processing several types of 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 (Amino acids are the building blocks of proteins). This clipping step is necessary for collagen molecules to function normally and assemble into fibrils outside cells.

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

Related conditions

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

References

  • Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV (1999). "Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene". Am J Hum Genet 65 (2): 308-17. PMID 10417273
  • Tang BL (2001). "ADAMTS: a novel family of extracellular matrix proteases". Int J Biochem Cell Biol 33 (1): 33-44. PMID 11167130
  • Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS (2003). "Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase". J Biol Chem 278 (21): 19549-57. PMID 12646579
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "ADAMTS2". A list of authors is available in Wikipedia.
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