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]
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CFDE DD-Knowledge Graph
The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View EXT1's neighborhood in the knowledge graph.
The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for EXT1.