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]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182197 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061731 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: EXT1 exostoses (multiple) 1".