EXT1 (Exostosin 1, Exostosin-1, EXT1, EXT1, Glucuronosyl-N-acetylglucosaminyl-Proteoglycan/N-acetylglucosaminyl-Proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Multiple exostoses Protein 1, Multiple exostoses Protein 1 Homolog, Putative Tumor Suppressor Protein EXT1)

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of exostoses (EXT), which are cartilage-capped bony protuberances mainly located on long bones. Two proteins associated with EXT, EXT1 and EXT2, form homo/heteromeric complexes in vivo, which leads to the accumulation of both proteins in the Golgi apparatus. EXT1 and EXT2 are endoplasmic reticulum-localized type II transmembrane glycoproteins that possess, or are tightly associated with, glycosyltransferase activities involved in the polymerization of the glycosaminoglycan, heparan sulfate (HS)....