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Reviewed May 2006

What is the official name of the ADAMTS2 gene?

The official name of this gene is “ADAM metallopeptidase with thrombospondin type 1 motif, 2.”

ADAMTS2 is the gene's official symbol. The ADAMTS2 gene is also known by other names, listed below.

What is the normal function of the ADAMTS2 gene?

The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules that add strength, support, and elasticity (the ability to stretch) to many body tissues. Specifically, the ADAMTS2 enzyme clips a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils outside cells.

Does the ADAMTS2 gene share characteristics with other genes?

The ADAMTS2 gene belongs to a family of genes called ADAMTS (ADAMTS metallopeptidase with thrombospondin type 1 motif).


How are changes in the ADAMTS2 gene related to health conditions?

Ehlers-Danlos syndrome - caused by mutations in the ADAMTS2 gene

Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. These mutations greatly reduce the production or activity of the enzyme made by the ADAMTS2 gene. Procollagens 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 disrupted. 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.

Where is the ADAMTS2 gene located?

Cytogenetic Location: 5qter

Molecular Location on chromosome 5: base pairs 179,110,850 to 179,345,429

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


More precisely, the ADAMTS2 gene is located from base pair 179,110,850 to base pair 179,345,429 on chromosome 5.


Where can I find additional information about ADAMTS2?

You and your healthcare professional may find the following resources about ADAMTS2 helpful.


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

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


What glossary definitions help with understanding ADAMTS2?

acids ; collagen ; connective tissue ; enzyme ; gene ; metalloprotease ; motif ; protein ; proteinase ; syndrome ; tissue



  • Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol. 2004 Oct;123(4):656-63. (
  • Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. 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. 1999 Aug;65(2):308-17. (
  • NCBI Gene (
  • Tang BL. ADAMTS: a novel family of extracellular matrix proteases. Int J Biochem Cell Biol. 2001 Jan;33(1):33-44. Review. (
  • Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS. Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. J Biol Chem. 2003 May 23;278(21):19549-57. Epub 2003 Mar 19. (



Reviewed: May 2006
Published: May 4, 2015