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Official Full Name: exostosin glycosyltransferase 1
Also known as: EXT; LGS; TTV; LGCR; TRPS2
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.
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