ADAMTS17
| ADAM metallopeptidase with thrombospondin type 1 motif, 17 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbol | ADAMTS17 | ||||||||||||
| External IDs | OMIM: 607511 HomoloGene: 16373 IUPHAR: 1689 GeneCards: ADAMTS17 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 170691 | 233332 | |||||||||||
| Ensembl | ENSG00000140470 | ENSMUSG00000058145 | |||||||||||
| UniProt | Q8TE56 | n/a | |||||||||||
| RefSeq (mRNA) | NM_139057 | NM_001033877 | |||||||||||
| RefSeq (protein) | NP_620688 | NP_001029049 | |||||||||||
| Location (UCSC) |
Chr 15: 99.97 – 100.34 Mb |
Chr 7: 66.84 – 67.15 Mb | |||||||||||
| PubMed search | |||||||||||||
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]
References
- ↑ "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17". Retrieved 2014-06-19.
- ↑ Shah, M. H.; Bhat, V; Shetty, J. S.; 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: 790–6. PMID 24940034.
Further reading
- Peters, B. J.; Rodin, A. S.; Klungel, O. H.; Stricker, B. H.; De Boer, A; Maitland-Van Der Zee, A. H. (2010). "Variants of ADAMTS1 modify the effectiveness of statins in reducing the risk of myocardial infarction". Pharmacogenetics and Genomics 20 (12): 766–74. doi:10.1097/FPC.0b013e328340aded. PMID 21037509.
- Sovio, U; Bennett, A. J.; Millwood, I. Y.; Molitor, J; O'Reilly, P. F.; Timpson, N. J.; Kaakinen, M; Laitinen, J; Haukka, J; Pillas, D; Tzoulaki, I; Molitor, J; Hoggart, C; Coin, L. J.; Whittaker, J; Pouta, A; Hartikainen, A. L.; Freimer, N. B.; Widen, E; Peltonen, L; Elliott, P; McCarthy, M. I.; Jarvelin, M. R. (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, D. L.; Padgett, L. R.; Lai, D; Hui, S. L.; Peacock, M; Foroud, T; Econs, M. J. (2010). "Replication of previous genome-wide association studies of bone mineral density in premenopausal American women". Journal of Bone and Mineral Research 25 (8): 1821–9. doi:10.1002/jbmr.62. PMC 3153352. PMID 20200978.
- Warnatz, H. -J.; Schmidt, D.; Manke, T.; Piccini, I.; Sultan, M.; Borodina, T.; Balzereit, D.; Wruck, W.; Soldatov, A.; Vingron, M.; Lehrach, H.; Yaspo, M. -L. (2011). "The BTB and CNC Homology 1 (BACH1) Target Genes Are Involved in the Oxidative Stress Response and in Control of the Cell Cycle". Journal of Biological Chemistry 286 (26): 23521–23532. doi:10.1074/jbc.M111.220178. PMC 3123115. PMID 21555518.
- Zhao, J; Li, M; Bradfield, J. P.; Zhang, H; Mentch, F. D.; Wang, K; Sleiman, P. M.; Kim, C. E.; Glessner, J. T.; Hou, C; Keating, B. J.; Thomas, K. A.; Garris, M. L.; Deliard, S; Frackelton, E. C.; Otieno, F. G.; Chiavacci, R. M.; Berkowitz, R. I.; Hakonarson, H; Grant, S. F. (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, A. J.; Llamazares, M; Garabaya, C; Quesada, V; López-Otín, C (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, A. O.; Aldahmesh, M. A.; Al-Ghadeer, H; Mohamed, J. Y.; Alkuraya, F. S. (2012). "Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation". Ophthalmic Genetics 33 (4): 235–9. doi:10.3109/13816810.2012.666708. PMID 22486325.
- Morales, J; Al-Sharif, L; Khalil, D. S.; Shinwari, J. M.; Bavi, P; Al-Mahrouqi, R. A.; Al-Rajhi, A; Alkuraya, F. S.; Meyer, B. F.; Al Tassan, N (2009). "Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature". The American Journal of Human Genetics 85 (5): 558–68. doi:10.1016/j.ajhg.2009.09.011. PMC 2775842. PMID 19836009.
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