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.
Interactions EXT1 has been shown to interact with TRAP1.
See also Langer–Giedion syndrome Hereditary multiple exostoses type 1
References
Further reading
External links Multiple Hereditary Exostoses Research Foundation