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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.[5]
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.[5]
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