ADAMTS6

<h2 id="function">Function</h2>
<p>This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha.
</p><p>Mutation in ADAMTS6 causes predisposition to <a href="/facts/Hernias/ffJnB19e">hernias</a>.<a class="footnote-ref" id="fnref:2" href="#fn:2"><sup>2</sup></a>
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<h2 id="further-reading">Further reading</h2>

<ul><li>Bevitt DJ, Li Z, Lindrop JL, Barker MD, Clarke MP, McKie N (2005). "Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control". <i>Gene</i>. 359: 99–110. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fj.gene.2005.06.011">10.1016/j.gene.2005.06.011</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16129570">16129570</a>.</li>
<li>Sakai N, Terami H, Suzuki S, Haga M, Nomoto K, Tsuchida N, Morohashi K, Saito N, Asada M, Hashimoto M, Harada D, Asahara H, Ishikawa T, Shimada F, Sakurada K (2008). <a href="https://doi.org/10.1677%2FJOE-08-0027">"Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies"</a>. <i>J. Endocrinol</i>. 198 (3): 489–97. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1677%2FJOE-08-0027">10.1677/JOE-08-0027</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/18579725">18579725</a>.</li>
<li>Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896464">"Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score"</a>. <i>Mol. Med</i>. 16 (7–8): 247–53. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.2119%2Fmolmed.2009.00159">10.2119/molmed.2009.00159</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896464">2896464</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/20379614">20379614</a>.</li></ul>

<p><i>This article incorporates text from the <a href="/facts/United_States_National_Library_of_Medicine/Hzty0MCX">United States National Library of Medicine</a>, which is in the <a href="/facts/Public_domain/YWKMDKw4">public domain</a>.</i>
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<h2 id="references">References</h2>

<ol>
<li id="fn:1"><p>"Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6". Retrieved 2017-09-01. <a href="https://www.ncbi.nlm.nih.gov/gene/11174" target="_blank">https://www.ncbi.nlm.nih.gov/gene/11174</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li>
<li id="fn:2"><p>Jorgenson, E.; Makki, N.; Shen, L.; Chen, D. C.; Tian, C.; Eckalbar, W. L.; Hinds, D.; Ahituv, N.; Avins, A. (2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed". Nature Communications. 6: 10130. doi:10.1038/ncomms10130. PMC 4703831. PMID 26686553. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703831" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703831</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li>
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ADAMTS6 open-in-new

ADAMTS6