缺陷的EXT2导致骨外生骨疣2
中文名称
通路描述
肝素（HS）参与调节发育、稳态和病理过程中的各种身体功能，包括凝血、血管生成和癌细胞转移。外泌素1和2（EXT1和2）糖基转移酶是形成HS所必需的。它们在HS合成期间能够将N-乙酰葡糖胺（GlcNAc）和葡萄糖醛酸（GlcA）转移到HS上。这些酶的功能形式似乎是两个酶形成的复合物，位于高尔基体膜上。EXT1或EXT2的缺陷可导致遗传性多发骨外生骨疣1（Petersen 1989）和2（McGaughran et al. 1995）（MIM:133700和MIM:133701），这是一种常染色体显性遗传病，表现为多发的骨突起，这些突起被软骨覆盖，导致腿、前臂和手畸形。
英文描述
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 (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.
所含基因
2 个基因