created | [InstanceEdit:3702179] Jassal, B, 2013-06-13 |
dbId | 3702171 |
displayName | Heparan sulfate (HS) is involved in regulating various body ... |
modified | [InstanceEdit:5607074] Jassal, Bijay, 2014-07-10 |
schemaClass | Summation |
text | 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 (Petersen 1989) and 2 (McGaughran et al. 1995) 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. |
(summation) |
© 2024 Reactome