Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

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.

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 family).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bowen DJ, Collins PW. Insights into von Willebrand factor proteolysis: clinical implications. Br J Haematol. 2006 Jun;133(5):457-67. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16681634?dopt=Abstract)
  • Dong JF. Cleavage of ultra-large von Willebrand factor by ADAMTS-13 under flow conditions. J Thromb Haemost. 2005 Aug;3(8):1710-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16102037?dopt=Abstract)
  • Kremer Hovinga JA, Studt JD, Lämmle B. The von Willebrand factor-cleaving protease (ADAMTS-13) and the diagnosis of thrombotic thrombocytopenic purpura (TTP). Pathophysiol Haemost Thromb. 2003 Sep-2004 Dec;33(5-6):417-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15692254?dopt=Abstract)
  • Levy GG, Motto DG, Ginsburg D. ADAMTS13 turns 3. Blood. 2005 Jul 1;106(1):11-7. Epub 2005 Mar 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15774620?dopt=Abstract)
  • Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001 Oct 4;413(6855):488-94. (http://www.ncbi.nlm.nih.gov/pubmed/11586351?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11093)
  • Sadler JE, Moake JL, Miyata T, George JN. Recent advances in thrombotic thrombocytopenic purpura. Hematology Am Soc Hematol Educ Program. 2004:407-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15561695?dopt=Abstract)
  • Tsai HM. Advances in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura. J Am Soc Nephrol. 2003 Apr;14(4):1072-81. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12660343?dopt=Abstract)
  • Tsai HM. Current concepts in thrombotic thrombocytopenic purpura. Annu Rev Med. 2006;57:419-36. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16409158?dopt=Abstract)
  • Tsai HM. Is severe deficiency of ADAMTS-13 specific for thrombotic thrombocytopenic purpura? Yes. J Thromb Haemost. 2003 Apr;1(4):625-31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12871390?dopt=Abstract)
  • Tsai HM. Molecular mechanisms in thrombotic thrombocytopenic purpura. Semin Thromb Hemost. 2004 Oct;30(5):549-57. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15497097?dopt=Abstract)
  • Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006 Jul;70(1):16-23. Epub 2006 May 31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16760911?dopt=Abstract)
  • Tsai HM. Thrombotic thrombocytopenic purpura: a thrombotic disorder caused by ADAMTS13 deficiency. Hematol Oncol Clin North Am. 2007 Aug;21(4):609-32, v. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17666281?dopt=Abstract)
  • Wilkinson R. People have been at work a long time. Nurs Manage. 1991 Dec;22(12):38-9. (http://www.ncbi.nlm.nih.gov/pubmed/1766628?dopt=Abstract)
  • Wolf G. Not known from ADAM(TS-13)--novel insights into the pathophysiology of thrombotic microangiopathies. Nephrol Dial Transplant. 2004 Jul;19(7):1687-93. Epub 2004 May 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15128885?dopt=Abstract)
  • Yarranton H, Machin SJ. An update on the pathogenesis and management of acquired thrombotic thrombocytopenic purpura. Curr Opin Neurol. 2003 Jun;16(3):367-73. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12858075?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2008
Published: July 21, 2014