ADAMTS6 explained

ADAM metallopeptidase with thrombospondin type 1 motif 6 is a protein that in humans is encoded by the ADAMTS6 gene.^[1]

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.^[2]

Further reading

• Bevitt DJ, Li Z, Lindrop JL, Barker MD, Clarke MP, McKie N . Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control . Gene . 359 . 99–110 . 2005 . 16129570 . 10.1016/j.gene.2005.06.011 .
• 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 . Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies . J. Endocrinol. . 198 . 3 . 489–97 . 2008 . 18579725 . 10.1677/JOE-08-0027 . free .
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . Mol. Med. . 16 . 7–8 . 247–53 . 2010 . 20379614 . 2896464 . 10.2119/molmed.2009.00159 .

Notes and References

1. Web site: Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6. 2017-09-01.
2. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed . 2015 . 26686553 . Jorgenson . E. . Makki . N. . Shen . L. . Chen . D. C. . Tian . C. . Eckalbar . W. L. . Hinds . D. . Ahituv . N. . Avins . A. . Nature Communications . 6 . 10130 . 10.1038/ncomms10130 . 4703831 .