ADAMTS6
{{Short description|Protein in humans}}
{{Infobox_gene}}
ADAM metallopeptidase with thrombospondin type 1 motif 6 is a protein that in humans is encoded by the ADAMTS6 gene.
{{cite web
| title = Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6
| url = https://www.ncbi.nlm.nih.gov/gene/11174
| access-date = 2017-09-01
}}
Function
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.
Mutation in ADAMTS6 causes predisposition to hernias.{{cite journal |title=A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed |year=2015 |pmid=26686553 |last1=Jorgenson |first1=E. |last2=Makki |first2=N. |last3=Shen |first3=L. |last4=Chen |first4=D. C. |last5=Tian |first5=C. |last6=Eckalbar |first6=W. L. |last7=Hinds |first7=D. |last8=Ahituv |first8=N. |last9=Avins |first9=A. |journal=Nature Communications |volume=6 |page=10130 |doi=10.1038/ncomms10130 |pmc=4703831 }}
References
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Further reading
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- {{cite journal |vauthors=Bevitt DJ, Li Z, Lindrop JL, Barker MD, Clarke MP, McKie N |title=Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control |journal=Gene |volume=359 |pages=99–110 |year=2005 |pmid=16129570 |doi=10.1016/j.gene.2005.06.011 }}
- {{cite journal |vauthors=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 |title=Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies |journal=J. Endocrinol. |volume=198 |issue=3 |pages=489–97 |year=2008 |pmid=18579725 |doi=10.1677/JOE-08-0027 |doi-access=free }}
- {{cite journal |vauthors=Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR |title=Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score |journal=Mol. Med. |volume=16 |issue=7–8 |pages=247–53 |year=2010 |pmid=20379614 |pmc=2896464 |doi=10.2119/molmed.2009.00159 }}
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