EXT1

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]