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Normal Function
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 found in the spaces between cells that add strength, support, and stretchiness (elasticity) to many body tissues. The ADAMTS2 enzyme cuts 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.
Health Conditions Related to Genetic Changes
Ehlers-Danlos syndrome
Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The dermatosparaxis type is characterized by soft, fragile skin that sags and wrinkles; easy bruising; and distinctive facial features.
Mutations in the ADAMTS2 gene greatly reduce the production or activity of the ADAMTS2 enzyme. Without enough of this enzyme, procollagens cannot be processed correctly. As a result, collagen fibrils are not assembled properly. The resulting fibrils are disorganized, which weakens connective tissues and leads to the signs and symptoms of the disorder.
More About This Health ConditionOther Names for This Gene
- a disintegrin and metalloproteinase with thrombospondin motifs 2
- a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
- ADAM metallopeptidase with thrombospondin type 1 motif, 2
- ADAM-TS2
- ATS2_HUMAN
- hPCPNI
- NPI
- PCINP
- PCPNI
- pNPI
- procollagen I N-proteinase
- procollagen I/II amino-propeptide processing enzyme
- procollagen N-endopeptidase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere 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. doi: 10.1111/j.0022-202X.2004.23406.x. Citation on PubMed
- Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere 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. doi: 10.1086/302504. Citation on PubMed or Free article on PubMed Central
- Kelwick R, Desanlis I, Wheeler GN, Edwards DR. The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. Genome Biol. 2015 May 30;16(1):113. doi: 10.1186/s13059-015-0676-3. Citation on PubMed or Free article on PubMed Central
- Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet. 2011 Oct 15;20(R2):R163-7. doi: 10.1093/hmg/ddr361. Epub 2011 Aug 31. Citation on PubMed
- 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. doi: 10.1074/jbc.M300767200. Epub 2003 Mar 19. Citation on PubMed
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