DPM2 缺陷导致 DPM2-CDG
中文名称
通路描述
DPM2 缺陷导致 DPM2-CDG。DPM 是一种嵌入内质网膜的多亚基蛋白，介导从胞质 GDP-甘露糖向 DOLP 转移甘露糖，形成 DOLPman。DPM1 亚基似乎是该异三聚体的实际催化剂，而 DPM2 和 DPM3 亚基似乎起到稳定作用（Maeda 等，2000）。DPM2 缺陷可导致糖基化发育障碍 1 型（DPM2-CDG，CDG1u；MIM:615042），这是一种多系统疾病，由糖蛋白生物合成缺陷引起，其特征是血清糖蛋白糖基化不足（Barone 等，2012）。CDG 1 型疾病导致一系列临床特征，如神经系统发育缺陷、运动发育迟缓、形态异常、低张力、凝血障碍和免疫缺陷。
英文描述
Defective DPM2 causes DPM2-CDG Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimeric protein embedded in the endoplasmic reticulum membrane, mediates the transfer of mannose (from cytosolic GDP-mannose) to dolichyl phosphate (DOLP) to form dolichyl-phosphate-mannose (DOLPman). The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits (DPM2 and 3) appear to stabilise it (Maeda et al. 2000). Defects in DPM2 can cause congenital disorder of glycosylation 1u (DPM2-CDG, CDG1u; MIM:615042), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Barone et al. 2012). CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency.
所含基因
2 个基因