| ADAMTS17 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17, WMS4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607511 MGI: 3588195 HomoloGene: 16373 GeneCards: ADAMTS17 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.[4]
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.[5]
References
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058145 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17".
- ↑ 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
- Human ADAMTS17 genome location and ADAMTS17 gene details page in the UCSC Genome Browser.
Further reading
- 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.
- 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 (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.
- Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud T, Econs MJ (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.
- Warnatz HJ, Schmidt D, Manke T, Piccini I, Sultan M, Borodina T, Balzereit D, Wruck W, Soldatov A, Vingron M, Lehrach H, Yaspo ML (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.
- 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 (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.
- 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. PMID 11867212.
- 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.
- Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N (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.
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