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. 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

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