BHE12104230
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene. This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase the other being EXT2 which are 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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