ADAMTS17
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An Error has occurred retrieving Wikidata item for infobox ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.[1]
Function
Template:Refimprove section 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]
References
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- ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17".
- ^ Page Module:Citation/CS1/styles.css has no content.Shah MH, Bhat V, Shetty JS, Kumar A (2014). "Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome". Molecular Vision. 20: 790–796. PMC 4057248. PMID 24940034.
External links
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Peters BJ, Rodin AS, Klungel OH, Stricker BH, de Boer A, Maitland-van der Zee AH (December 2010). "Variants of ADAMTS1 modify the effectiveness of statins in reducing the risk of myocardial infarction". Pharmacogenetics and Genomics. 20 (12): 766–774. doi:10.1097/FPC.0b013e328340aded. PMID 21037509. S2CID 23007611.
- Page Module:Citation/CS1/styles.css has no content.Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, et al. (March 2009). "Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966". PLOS Genetics. 5 (3) e1000409. doi:10.1371/journal.pgen.1000409. PMC 2646138. PMID 19266077.
- Page Module:Citation/CS1/styles.css has no content.Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, et al. (August 2010). "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. doi:10.1002/jbmr.62. PMC 3153352. PMID 20200978.
- Page Module:Citation/CS1/styles.css has no content.Warnatz HJ, Schmidt D, Manke T, Piccini I, Sultan M, Borodina T, et al. (July 2011). "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. doi:10.1074/jbc.M111.220178. PMC 3123115. PMID 21555518.
- Page Module:Citation/CS1/styles.css has no content.Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, et al. (June 2010). "The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature". BMC Medical Genetics. 11 96. doi:10.1186/1471-2350-11-96. PMC 2894790. PMID 20546612.
- Page Module:Citation/CS1/styles.css has no content.Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, López-Otín C (January 2002). "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. doi:10.1016/s0378-1119(01)00861-7. hdl:10651/41695. PMID 11867212.
- Page Module:Citation/CS1/styles.css has no content.Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS (December 2012). "Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation". Ophthalmic Genetics. 33 (4): 235–239. doi:10.3109/13816810.2012.666708. PMID 22486325. S2CID 37291964.
- Page Module:Citation/CS1/styles.css has no content.Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, et al. (November 2009). "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. doi:10.1016/j.ajhg.2009.09.011. PMC 2775842. PMID 19836009.
This article incorporates text from the United States National Library of Medicine, which is in the public domain. Template:Asbox
