ADAMTS17

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

ADAMTS17
Identifiers
Aliases	ADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17, WMS4
External IDs	OMIM: 607511; MGI: 3588195; HomoloGene: 16373; GeneCards: ADAMTS17; OMA:ADAMTS17 - orthologs
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 C Start 66,489,483 bp End 66,802,919 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus right lobe of liver tibia gastrocnemius muscle body of pancreas amniotic fluid minor salivary glands germinal epithelium skin of abdomen gastric mucosa Top expressed in upper arm mesenchyme trigeminal ganglion spinal ganglia genital tubercle tail of embryo secondary oocyte peripheral nervous system superior cervical ganglion primary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity metalloendopeptidase activity hydrolase activity metallopeptidase activity metal ion binding nucleic acid binding Cellular component extracellular region Biological process proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 170691 233332 Ensembl n/a ENSMUSG00000058145 UniProt Q8TE56 n/a RefSeq (mRNA) NM_139057 NM_001033877 RefSeq (protein) NP_620688 n/a Location (UCSC) n/a Chr 7: 66.49 – 66.8 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

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, 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.
• 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.
• 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.
• 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.
• 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, 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.