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Exostosin 2

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, POLYMERASE, OUT, glycosyltransferase
Papers on EXT2
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Kim et al., Augusta, United States. In Am J Med Genet A, Dec 2015
The PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
Hegele et al., London, Canada. In J Med Genet, Oct 2015
RESULTS: We identified two homozygous mutations p.Met87Arg and p.Arg95 Cys in exostosin 2, EXT2, a ubiquitously expressed gene that encodes a glycosyltransferase required for heparan sulfate synthesis.
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report.
Bi et al., Hangzhou, China. In Oncol Lett, Aug 2015
Exostosin-1 (EXT1) and EXT2 are the major morbigenous genes associated with HMO, mutations in which are responsible for 90% of all HMO cases.
Heparanase stimulates chondrogenesis and is up-regulated in human ectopic cartilage: a mechanism possibly involved in hereditary multiple exostoses.
Pacifici et al., Philadelphia, United States. In Am J Pathol, Jun 2015
Hereditary multiple exostoses patients carry heterozygous mutations in the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2, but studies suggest that EXT haploinsufficiency and ensuing partial HS deficiency are insufficient for exostosis formation.
[Osteochondroma in children and adolescents].
Bologov et al., In Arkh Patol, May 2015
Multiple osteochondromas syndrome (MOS) is an autosomal dominant disease, the basis for which is mutations in the EXT (EXT1 or EXT2) genes.
Heparanase and Syndecan-4 Are Involved in Low Molecular Weight Fucoidan-Induced Angiogenesis.
Hlawaty et al., Bobigny, France. In Mar Drugs, 2014
We investigated the potential role of two heparan sulfate (HS) metabolism enzymes, exostosin-2 (EXT2) and heparanase (HPSE), and of two HS-membrane proteoglycans, syndecan-1 and -4 (SDC-1 and SDC-4), in LMWF induced angiogenesis.
EXTL2 controls liver regeneration and aortic calcification through xylose kinase-dependent regulation of glycosaminoglycan biosynthesis.
Kitagawa et al., Kōbe, Japan. In Matrix Biol, 2014
The gene products of two members of the EXT gene family, EXT1 and EXT2, function together as a polymerase in the biosynthesis of heparan sulfate.
Genetic alterations in chondrosarcomas - keys to targeted therapies?
Lindskog et al., New Haven, United States. In Cell Oncol (dordr), 2014
As they are not observed in malignant cells, mutations in the EXT1 and EXT2 genes are considered early-stage events providing an environment that alters IHH/PTHrP signaling, thereby inducing mutations in adjacent cells.
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.
Pacifici et al., Philadelphia, United States. In Dev Dyn, 2013
The disease we discuss here is hereditary multiple exostoses (HME), a disorder caused by mutations in HS synthesizing enzymes EXT1 and EXT2, leading to HS deficiency.
Heparan sulfate biosynthesis: methods for investigation of the heparanosome.
Couchman et al., Copenhagen, Denmark. In J Histochem Cytochem, 2012
The EXT2 protein, which when combined as heterodimers with EXT1 comprises the major polymerase in heparan sulfate synthesis, has been studied in depth.
Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.
Ling et al., Changsha, China. In Gene, 2012
analysis of novel pathogenic mutations in EXT1 and EXT2 that may have roles in multiple osteochondroma in Chinese patients
Epiphyseal growth plate and secondary peripheral chondrosarcoma: the neighbours matter.
Hogendoorn et al., Leiden, Netherlands. In J Pathol, 2012
Homozygous mutations of EXT1/EXT2 result in reduced synthesis and shortened heparan sulphate chains on both cell surface and matrix proteoglycans.
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
Zhou et al., Nanjing, China. In Chin Med J (engl), 2011
Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene in two families with multiple osteochodromas.
Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia.
Ayadi et al., Sfax, Tunisia. In Genet Test Mol Biomarkers, 2011
Association of genetic variations in EXT2 with Type 2 diabetes mellitus in Tunisia
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.
Wuyts et al., Edegem, Belgium. In Bmc Med Genet, 2010
Molecular characterization of EXT1- and EXT2-deletion breakpoints in multiple osteochondroma indicates that non-allelic homologous recombination between Alu-sequences as well as NHEJ are causal and that the majority of these deletions are nonrecurring.
Zebrafish Ext2 is necessary for Fgf and Wnt signaling, but not for Hh signaling.
Ledin et al., Heidelberg, Germany. In Bmc Dev Biol, 2010
We conclude that ext2 is involved in Fgf and Wnt signaling but not in Hh signaling, revealing an unexpected specificity for ext2 in signaling pathways during embryonic development.
A genome-wide association study identifies novel risk loci for type 2 diabetes.
Froguel et al., Montréal, Canada. In Nature, 2007
These loci include a non-synonymous polymorphism in the zinc transporter SLC30A8, which is expressed exclusively in insulin-producing beta-cells, and two linkage disequilibrium blocks that contain genes potentially involved in beta-cell development or function (IDE-KIF11-HHEX and EXT2-ALX4).
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Wilkie et al., Oxford, United Kingdom. In Nat Genet, 2001
Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM.
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.
Tufaro et al., Vancouver, Canada. In Nat Genet, 1998
EXT2 on 11p11-13 and EXT3 on 19p (refs 6-9).
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.
Evans et al., Dallas, United States. In Nat Genet, 1996
Here, we report the isolation and characterization of the EXT2 gene.
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