| 释义 |
- Gene
- Function
- Clinical significance
- See also
- References
- Further reading
- External links
{{Infobox_gene}}A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase (PC I-NP) is an enzyme[1] that in humans is encoded by the ADAMTS2 gene.[2][3] Gene The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminus) of the arm, from base pair 178,473,473 to base pair 178,704,934. Function ADAMTS2 is responsible for processing several types of 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 one end of the procollagen. This clipping step is necessary for collagen molecules to function normally and assemble into fibrils outside cells. Clinical significance Ehlers-Danlos syndrome, dermatosparaxis type is caused by mutations in the ADAMTS2 gene.[3] Several mutations in the ADAMTS2 gene have been identified in people with this syndrome. These mutations greatly reduce the production of the enzyme made by the ADAMTS2 gene. Procollagen 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 affected. 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. See alsoReferences1. ^{{cite journal | vauthors = Tang BL, Hong W | title = ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats | journal = FEBS Lett. | volume = 445 | issue = 2–3 | pages = 223–5 |date=February 1999| pmid = 10094461 | doi = 10.1016/S0014-5793(99)00119-2| url = }}
2. ^{{cite web | title = Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9509| accessdate = }}
3. ^1 {{cite journal | vauthors = 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 | title = Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene | journal = J. Invest. Dermatol. | volume = 123 | issue = 4 | pages = 656–63 |date=October 2004| pmid = 15373769 | doi = 10.1111/j.0022-202X.2004.23406.x | url = }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors = Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS | title = Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase | journal = J. Biol. Chem. | volume = 278 | issue = 21 | pages = 19549–57 |date=May 2003| pmid = 12646579 | doi = 10.1074/jbc.M300767200 | url = }}
- {{cite journal |vauthors =Reardon W, Winter RM, Smith LT |title=The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC) |journal=Clin. Dysmorphol. |volume=4 |issue= 1 |pages= 1–11 |year= 1995 |pmid= 7735500 |doi= 10.1097/00019605-199501000-00001|display-authors=etal}}
- {{cite journal |vauthors =Colige A, Vandenberghe I, Thiry M |title=Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3 |journal=J. Biol. Chem. |volume=277 |issue= 8 |pages= 5756–66 |year= 2002 |pmid= 11741898 |doi= 10.1074/jbc.M105601200 |display-authors=etal}}
- {{cite journal |vauthors =Kevorkian L, Young DA, Darrah C |title=Expression profiling of metalloproteinases and their inhibitors in cartilage |journal=Arthritis Rheum. |volume=50 |issue= 1 |pages= 131–41 |year= 2004 |pmid= 14730609 |doi= 10.1002/art.11433 |display-authors=etal}}
- {{cite journal |vauthors =Hurskainen TL, Hirohata S, Seldin MF, Apte SS |title=ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family |journal=J. Biol. Chem. |volume=274 |issue= 36 |pages= 25555–63 |year= 1999 |pmid= 10464288 |doi=10.1074/jbc.274.36.25555 }}
- {{cite journal |vauthors =Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |pmc=1356129 |doi= 10.1101/gr.4039406 |display-authors=etal}}
- {{cite journal |vauthors =Dubail J, Kesteloot F, Deroanne C |title=ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity |journal=Cellular and Molecular Life Sciences : CMLS |volume= 67|issue= 24|pages= 4213–32 |year= 2010 |pmid= 20574651 |doi= 10.1007/s00018-010-0431-6 |display-authors=etal}}
- {{cite journal |vauthors =Colige A, Sieron AL, Li SW |title=Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene |journal=Am. J. Hum. Genet. |volume=65 |issue= 2 |pages= 308–17 |year= 1999 |pmid= 10417273 |pmc=1377929 |doi= 10.1086/302504 |display-authors=etal}}
- {{cite journal |vauthors =Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2000 |pmid= 11076863 |pmc=310948 |doi=10.1101/gr.143000 }}
- {{cite journal |author =Tang BL |title=ADAMTS: a novel family of extracellular matrix proteases |journal=Int. J. Biochem. Cell Biol. |volume=33 |issue= 1 |pages= 33–44 |year= 2001 |pmid= 11167130 |doi= 10.1016/S1357-2725(00)00061-3 }}
- {{cite journal |vauthors =Lasky-Su J, Anney RJ, Neale BM |title=Genome-wide association scan of the time to onset of Attention Deficit Hyperactivity Disorder |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=147B |issue= 8 |pages= 1355–8 |year= 2008 |pmid= 18937294 |pmc=2605611 |doi= 10.1002/ajmg.b.30869 |display-authors=etal}}
- {{cite journal |vauthors =Colige A, Ruggiero F, Vandenberghe I |title=Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V |journal=J. Biol. Chem. |volume=280 |issue= 41 |pages= 34397–408 |year= 2005 |pmid= 16046392 |doi= 10.1074/jbc.M506458200 |display-authors=etal}}
- {{cite journal |vauthors =Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 |display-authors=etal}}
- {{cite journal |vauthors =Brandenberger R, Wei H, Zhang S |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2004 |pmid= 15146197 |doi= 10.1038/nbt971 |display-authors=etal}}
- {{cite journal |vauthors =Tomii Y, Kamochi J, Yamazaki H |title=Human thrombospondin 2 inhibits proliferation of microvascular endothelial cells |journal=Int. J. Oncol. |volume=20 |issue= 2 |pages= 339–42 |year= 2002 |pmid= 11788898 |doi= 10.3892/ijo.20.2.339|display-authors=etal}}
{{refend}}External links- [https://web.archive.org/web/20160304094047/http://www.genecards.org/cgi-bin/carddisp?ADAMTS2 GeneCard]
- The MEROPS online database for peptidases and their inhibitors: M12.301
- {{UCSC gene info|ADAMTS2}}
{{Fibrous proteins}}{{Metalloendopeptidases}}{{Enzymes}}{{Portal bar|Molecular and Cellular Biology|border=no}} 2 : EC 3.4.24|ADAMTS |