该基因编码一个内质网驻留的ii型跨膜糖基转移酶,参与硫酸乙酰肝素生物合成的链延伸步骤。该基因突变导致I型多发性外生瘤。[由RefSeq提供,2008年7月] This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis....
基因检测报告英文版基因简介 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. [provided by RefSeq, Jul 2008] 基因突变所...
Gene ID: 2131 种属 Homo sapiens 基因序列编号: NM_000127.3 基因描述 Homo sapiens exostosin glycosyltransferase 1 (EXT1), mRNA DNA编码区: atgcaggccaaaaaacgctatttcatcctgctctcagctggctcttgtctcgcccttttg ttttatttcggaggcttgcagtttagggcatcgaggagccacagccggagagaagaacac agcggtaggaatggcttgcaccaccccagtccggatcattt...
Legeai-Mallet L., et al.: Ext 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses. J Bone Miner Res. Aug. 2000; 15(8):1489-500.Legeai-Mallet L, Rossi A, Benoist-Lasselin C, Piazza R, Mallet JF, Delezoide AL, Munnich A,...
Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] 基因名: EXT1 别名: EXT,LGS,TTV,LGCR,TRPS2 基因ID: 2131 Chromosome:(GRCh37) 8 Start: 118811602 End: 119124058 Strand: 信号通路: EXT1 基因突变与药物...
Hereditary multiple exostoses (HME) is an autosomal dominant orthopaedic disorder most frequently caused by mutations in theEXT1gene. The aim of the present study is to determine the underlying molecular defect of HME in two multigenerational Tunisian families with 21 affected members and to ...
A gene for hereditary multiple exostoses maps to chromosome 19p Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences ... MM Le,LM Laurence,JP Margaritte,... - 《Human Molecular Genetics》 被引...
In contrast, of 17 established gene regions identified in both newborn studies, 6 were reported in at least one adult study (AHRR, CNTNAP2, GNG12, GFI1, ATP9A, MYO1G), whereas 11 (LOC284998, FTO, CUX2, CYP1A1, VGLL4, KIF26B, MEG3, FRMD4A, GALNT2, LOC100507468, EXT1) were...
ses.The sequence,exons,coding protein,physical and chemical characters of EXT1 gene were analyzed.The structure and function of its coding protein were predicted,and the phylogenetic tree for the homologous gene was constructed,which provided certain basis for the future research of human EXT1 gene...
In 17 of 23 patients novel pathogenic mutations have been identified; eleven in the EXT1 and six in the EXT2 gene. Five patients were carriers of recurrent mutations in the EXT2 gene (p.Asp227Asn, p.Gln172X, p.Gln258X) and one patient had no detectable mutation. To demonstrate their...