ADAMTS17 explained

ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.^[1]

Function

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008].

Clinical significance

Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome.^[2]

Further reading

• Peters BJ, Rodin AS, Klungel OH, Stricker BH, de Boer A, Maitland-van der Zee AH . Variants of ADAMTS1 modify the effectiveness of statins in reducing the risk of myocardial infarction . Pharmacogenetics and Genomics . 20 . 12 . 766–774 . December 2010 . 21037509 . 10.1097/FPC.0b013e328340aded . 23007611 .
• Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL, Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI, Jarvelin MR . Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966 . PLoS Genetics . 5 . 3 . e1000409 . March 2009 . 19266077 . 2646138 . 10.1371/journal.pgen.1000409 . Ioanna Tzoulaki . free .
• Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud T, Econs MJ . Replication of previous genome-wide association studies of bone mineral density in premenopausal American women . Journal of Bone and Mineral Research . 25 . 8 . 1821–1829 . August 2010 . 20200978 . 3153352 . 10.1002/jbmr.62 .
• Warnatz HJ, Schmidt D, Manke T, Piccini I, Sultan M, Borodina T, Balzereit D, Wruck W, Soldatov A, Vingron M, Lehrach H, Yaspo ML . The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle . The Journal of Biological Chemistry . 286 . 26 . 23521–23532 . July 2011 . 21555518 . 3123115 . 10.1074/jbc.M111.220178 . free .
• Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF . The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature . BMC Medical Genetics . 11 . 96 . June 2010 . 20546612 . 2894790 . 10.1186/1471-2350-11-96 . free .
• Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, López-Otín C . Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains . Gene . 283 . 1–2 . 49–62 . January 2002 . 11867212 . 10.1016/s0378-1119(01)00861-7 .
• Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS . Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation . Ophthalmic Genetics . 33 . 4 . 235–239 . December 2012 . 22486325 . 10.3109/13816810.2012.666708 . 37291964 .
• Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N . Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature . American Journal of Human Genetics . 85 . 5 . 558–568 . November 2009 . 19836009 . 2775842 . 10.1016/j.ajhg.2009.09.011 .

Notes and References

1. Web site: Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17 .
2. Shah MH, Bhat V, Shetty JS, Kumar A . Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome . Molecular Vision . 20 . 790–796 . 2014 . 24940034 . 4057248.