Gene: EXT1

Alternate names for this Gene: EXT|LGCR|LGS|TRPS2|TTV

Gene Summary: This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.11

Description of this Gene: exostosin glycosyltransferase 1

Type of Gene: protein-coding

rs7008536 in EXT1 gene and Blood basophil count (lab test) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs4546690 in EXT1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72673947 in EXT1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs142459060 in EXT1 gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs1131691623 in EXT1 gene and Hereditary Multiple Exostoses PMID 11391482 2001 Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

PMID 10679937 2000 Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

PMID 19810120 2009 Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

PMID 23439489 2013 Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

PMID 8981950 1997 Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

PMID 18165274 2008 Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.

PMID 26961984 2016 Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

PMID 26239617 2015 Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

PMID 24532482 2014 Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

PMID 25468659 2014 Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.

PMID 9521425 1998 Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

PMID 10713884 2000 Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

PMID 18330718 2009 Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

PMID 9326317 1997 Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

PMID 9620772 1998 The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.

PMID 10639137 2000 The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

PMID 10679296 2000 Biochemical analyses indicate that EXT1 and EXT2 can associate and form homo/hetero-oligomers in vivo with or without HME-linked mutations, EXT1 (R340C) and EXT2 (D227N), when exogenously expressed in COS-7 cells.

PMID 16283885 2005 An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

PMID 11432960 2001 Genotype-phenotype correlation in hereditary multiple exostoses.

PMID 11170095 2001 Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.

PMID 26690531 2015 Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

PMID 25541963 2014 Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.

PMID 26515642 2015 A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.

PMID 18373409 2008 Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

PMID 17301954 2007 A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

PMID 15586175 2005 Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

PMID 11169766 2001 Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

PMID 10480354 1999 Mutation analysis of hereditary multiple exostoses in the Chinese.

PMID 9463333 1998 Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

PMID 10441575 1999 EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

PMID 19839753 2009 Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.

PMID 12490068 2002 Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan.

PMID 22258776 2011 "Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of ""protective"" and ""risk"" factors."

PMID 17041877 2006 Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

PMID 9150727 1997 Identification of novel mutations in the human EXT1 tumor suppressor gene.

PMID 1816274 1991 Morphometric analysis of phrenic motoneurons in the cat during postnatal development.

PMID 7550340 1995 Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

rs7814022 in EXT1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs7836010 in EXT1 gene and Left ventricular mass PMID 21212386 2011 Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families.

rs111709825 in EXT1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs13280053 in EXT1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.