Name = ADAM metallopeptidase with thrombospondin type 1 motif, 2
HGNCid = 218
Symbol = ADAMTS2
EntrezGene = 9509
OMIM = 604539
RefSeq = NM_014244
UniProt = O95450
Chromosome = 5
Arm = q
Band = 23
LocusSupplementaryData = -q24
ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif, 2) is a
genethat produces an enzymethat 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 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 pair178,473,473 to base pair 178,704,934.
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.
* PMID 10417273
* PMID 11167130
* PMID 12646579
* [http://www.genecards.org/cgi-bin/carddisp?ADAMTS2 GeneCard]
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