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ADAMTS13

ADAMTS13

Reviewed October 2008

What is the official name of the ADAMTS13 gene?

The official name of this gene is “ADAM metallopeptidase with thrombospondin type 1 motif, 13.”

ADAMTS13 is the gene's official symbol. The ADAMTS13 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ADAMTS13 gene?

The ADAMTS13 gene provides instructions for making an enzyme that is involved in blood clotting. After an injury, clots normally protect the body by sealing off damaged blood vessels and preventing further blood loss.

The ADAMTS13 enzyme processes a large protein called von Willebrand factor, which also plays a role in clot formation. The unprocessed form of von Willebrand factor interacts easily with cell fragments called platelets, which circulate in the bloodstream and are essential for blood clotting. The factor helps platelets stick together and adhere to the walls of blood vessels, forming temporary clots. The ADAMTS13 enzyme cuts von Willebrand factor into smaller pieces. By processing von Willebrand factor in this way, the enzyme prevents it from triggering the formation of unnecessary blood clots.

Does the ADAMTS13 gene share characteristics with other genes?

The ADAMTS13 gene belongs to a family of genes called ADAMTS (ADAMTS metallopeptidase with thrombospondin type 1 motif).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the ADAMTS13 gene related to health conditions?

thrombotic thrombocytopenic purpura - caused by mutations in the ADAMTS13 gene

More than 70 mutations in the ADAMTS13 gene have been reported in people with the familial form of thrombotic thrombocytopenic purpura. Most of these mutations change single protein building blocks (amino acids) in the ADAMTS13 enzyme. Other mutations lead to the production of an abnormally small version of the enzyme that cannot function properly.

Mutations in the ADAMTS13 gene severely reduce the activity of the ADAMTS13 enzyme. As a result, von Willebrand factor is not processed normally in the bloodstream. If the factor is not cut into smaller fragments by the ADAMTS13 enzyme, it promotes the formation of abnormal clots throughout the body. The large, uncut version of von Willebrand factor induces platelets to stick together and adhere to the walls of blood vessels, even in the absence of injury. Additional factors such as pregnancy, diarrhea, surgery, and infection likely play a role in triggering abnormal clotting. Blood clots can block blood flow through small vessels, causing damage to the brain, kidneys, heart, and other organs. Abnormal clotting also causes other complications associated with thrombotic thrombocytopenic purpura.

Where is the ADAMTS13 gene located?

Cytogenetic Location: 9q34

Molecular Location on chromosome 9: base pairs 133,414,338 to 133,459,402

The ADAMTS13 gene is located on the long (q) arm of chromosome 9 at position 34.

The ADAMTS13 gene is located on the long (q) arm of chromosome 9 at position 34.

More precisely, the ADAMTS13 gene is located from base pair 133,414,338 to base pair 133,459,402 on chromosome 9.

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

Where can I find additional information about ADAMTS13?

You and your healthcare professional may find the following resources about ADAMTS13 helpful.

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

What other names do people use for the ADAMTS13 gene or gene products?

  • ADAMTS-13
  • ATS13_HUMAN
  • C9orf8
  • von Willebrand factor-cleaving protease
  • vWF-cleaving protease
  • VWFCP
  • vWF-CP

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 ADAMTS13?

acids ; blood clotting ; cell ; clotting ; enzyme ; familial ; gene ; hemostasis ; infection ; injury ; motif ; platelets ; protease ; protein ; purpura ; surgery

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

See also Understanding Medical Terminology.

References (16 links)

 

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.

 
Reviewed: October 2008
Published: December 16, 2014