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ADAMTS2

ADAMTS2

A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2

What is the normal function of the ADAMTS2 gene?

The ADAMTS2 gene produces an enzyme in the cell called a metalloproteinase. 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. This clipping step is necessary for proper assembly and function of collagen molecules.

What conditions are related to the ADAMTS2 gene?

Ehlers-Danlos syndrome, dermatosparaxis type - caused by mutations in the ADAMTS2 gene

Two mutations in the ADAMTS2 gene have been identified in patients with this type of Ehlers-Danlos syndrome. 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.

Where is the ADAMTS2 gene located?

5qter

The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminal) of the arm.

The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminal) of the arm.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find information about ADAMTS2?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ADAMTS2 gene or gene products?

  • ADAM-TS2
  • A disintegrin and metalloproteinase with thrombospondin motifs 2
  • ATS2_HUMAN
  • hPCPNI
  • NPI
  • PCINP
  • PCPNI
  • pNPI
  • Procollagen I/II amino-propeptide processing enzyme
  • procollagen I N-proteinase
  • Procollagen N-endopeptidase

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ADAMTS2?

amino acid ; collagen ; connective tissue ; cross-link ; enzyme ; fibril ; gene ; molecule ; motif ; mutation ; protein ; symptom

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 
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The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.
 
Last Comprehensive Review: September 2003
Updated: June 29, 2004
Published: October 8, 2004
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