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ADAM metallopeptidase with thrombospondin type 1 motif, 17

ADAMTS17
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] (from NCBI)
Top mentioned proteins: fibrillin-1, ADAMTS, CAN, ADAMTS13, thrombospondin-1
Papers on ADAMTS17
Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers.
New
Kyaw-Tanner et al., Brisbane, Australia. In Invest Ophthalmol Vis Sci, Jan 2016
A truncating mutation in the ADAMTS17 orthologue on CFA03 is reported to cause PLL in several breeds, mostly terriers.
ADAMTS proteins as modulators of microfibril formation and function.
Review
New
Apte et al., Cleveland, United States. In Matrix Biol, Sep 2015
The possibility of functional linkage between ADAMTS proteins and fibrillin microfibrils was first revealed by a human genetic consilience, in which mutations in ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 were found to phenocopy rare genetic disorders caused by mutations affecting fibrillin-1 (FBN1), the major microfibril component in adults.
Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics.
Review
New
Apte et al., Cleveland, United States. In Matrix Biol, May 2015
The clinical manifestations of Mendelian disorders resulting from mutations in ADAMTS2, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2 and ADAMTSL4 identified essential roles for each gene, but also suggested potential cooperative functions of ADAMTS proteins.
A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17.
Mellersh et al., Newmarket, United Kingdom. In Plos One, 2014
The resulting genome-wide association signal was followed up by genome sequencing of an individual case, leading to the identification of an inversion with a breakpoint disrupting the ADAMTS17 gene.
Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog.
Mellersh et al., Newmarket, United Kingdom. In Plos One, 2014
The closely related gene, ADAMTS17, has also been associated with several different ocular phenotypes in multiple breeds of dog, including primary lens luxation and POAG.
Copy number variants in patients with short stature.
Wit et al., Leiden, Netherlands. In Eur J Hum Genet, 2014
Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA).
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Kumar et al., Bengaluru, India. In Mol Vis, 2013
Mutations in the LTBP2 and ADAMTS17 genes cause a WMS-like syndrome, in which the affected individuals show major features of WMS but do not display brachydactyly and joint stiffness.
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Michels et al., Rochester, United States. In Am J Med Genet A, 2013
Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2.
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
Fischer et al., Freiburg, Germany. In Plos Genet, 2013
Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3) and abolishes a sequence for a long non-coding RNA (FLJ42289).
A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.
Nowak-Göttl et al., Münster, Germany. In Blood, 2013
We observed clustering of association signals in 4 genes belonging to one family of metalloproteinases at high (ADAMTS12, P = 2.9 × 10(-6); ADAMTS2, P = 8.0 × 10(-6)) and moderate (ADAMTS13, P = 9.3 × 10(-4); ADAMTS17, P = 8.5 × 10(-4)) significance levels.
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Alkuraya et al., Riyadh, Saudi Arabia. In Ophthalmic Genet, 2012
In contrast, isolated spherophakia with short stature has been associated with three different homozygous ADAMTS17 mutations in three families from Saudi Arabia.
ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.
Mellersh et al., United Kingdom. In Vet Ophthalmol, 2011
We screened PLL-affected dogs of 30 different breeds, to identify those which carried a previously described c.1473+1 G>A mutation in ADAMTS17 that is associated with PLL in Miniature Bull terriers, Lancashire Heelers, and Jack Russell terriers.
The ADAMTS(L) family and human genetic disorders.
Review
Cormier-Daire et al., Paris, France. In Hum Mol Genet, 2011
Mutations in ADAMTS13, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 have been identified in distinct human genetic disorders ranging from thrombotic thrombocytopenic purpura to acromelic dysplasia.
Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.
Review
Apte et al., Cleveland, United States. In Cell Mol Life Sci, 2011
Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2).
Primary lens instability in ten related cats: clinical and genetic considerations.
Chahory et al., Maisons-Alfort, France. In J Small Anim Pract, 2011
The potential involvement of several candidate genes (ADAMTS17, ADAMTSL4, ADAMTS10 and FBN1) known to be associated with lens luxation in other species was investigated.
The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
GeneRIF
Yaspo et al., Berlin, Germany. In J Biol Chem, 2011
ADAMTS17 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
GeneRIF
Al Tassan et al., Riyadh, Saudi Arabia. In Am J Hum Genet, 2009
Homozygous mutation in ADAMTS17 causes lenticular myopia, ectopia lentis, glaucoma, spheropakia, and short stature.
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