DAG1 核心 M1 糖基化
中文名称
通路描述
蛋白质连接的 O-甘露糖糖基化由甘露糖通过α-键共价连接到蛋白质中的丝氨酸和苏氨酸残基上启动。核心 M1 糖基化是所有 O-甘露糖糖基化中，O-甘露糖延伸出β-1,2-连接的N-乙酰葡萄糖胺（GlcNAc）但不延伸出β-1,6-连接的GlcNAc的结构。M1结构不直接与关键细胞外成分直接结合，但它们作为M2结构的必需前体，并支持M3糖基化的成熟（Praissman & Wells 2014; Endo, 2019）。
英文描述
Defective DPM1 causes DPM1-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 DPM1 can cause congenital disorder of glycosylation 1e (DPM1-CDG, CDG-1e; MIM:608799), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Kim et al. 2000, Imbach et al. 2000, Garcia-Silva et al. 2004).
所含基因
2 个基因