Defective EXT2 causes exostoses 2

Heparan sulfate (HS) is involved in regulating various body functions during development, homeostasis and pathology including blood clotting, angiogenesis and metastasis of cancer cells. Exostosin 1 and 2 (EXT1 and 2) glycosyltransferases are required to form HS. They are able to transfer N-acetylglucosamine (GlcNAc) and glucuronate (GlcA) to HS during its synthesis. The functional form of these enzymes appears to be a complex of the two located on the Golgi membrane. Defects in either EXT1 or EXT2 can cause hereditary multiple exostoses 1 and 2 respectively (MIM:133700 and MIM:133701), autosomal dominant disorders characterised by multiple projections of bone capped by cartilage resulting in deformed legs, forearms and hands.

Summary from Reactome (R-HSA-3656237), read 2026-09-23.