缺陷的 POMGNT1 导致 MDDGA3、MDDGB3 和 MDDGC3

中文名称

通路描述

蛋白 O-甘露糖β-1,2-N-乙酰葡糖苷转移酶 1（POMGNT1；CAZy 家族 GT61；MIM:606822）介导向甘露糖化蛋白如甘露糖-O-半乳糖胺-DAG1转移N-乙酰葡糖胺残基。DAG1是一种细胞表面蛋白，在肌肉、脑和周围神经的外基质组装中发挥重要作用，通过将基底膜与细胞骨架蛋白连接起来。POMGNT1（MIM:606822）的缺陷导致DAG1糖基化紊乱，可引起严重先天性肌营养不良-糖蛋白病，从严重的类型A3（MDDGA3；MIM:253280），到较轻的类型B3（MDDGB3；MIM:613151）再到较轻的类型C3（MDDGC3；MIM:613157）（Bertini et al. 2011, Wells 2013）。

英文描述

Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1; CAZy family GT61; MIM:606822) mediates the transfer of N-acetylglucosaminyl (GlcNAc) residues to mannosylated proteins such as mannose-O-serine-dystroglycan (man-O-Ser-DAG1). DAG1 is a cell surface protein that plays an important role in the assembly of the extracellular matrix in muscle, brain, and peripheral nerves by linking the basal lamina to cytoskeletal proteins. Defects in POMGNT1 (MIM:606822) result in disrupted glycosylation of DAG1 and can cause severe congenital muscular dystrophy-dystroglycanopathies ranging from a severe type A3 (MDDGA3; MIM:253280), through a less severe type B3 (MDDGB3; MIM:613151) to a milder type C3 (MDDGC3; MIM:613157) (Bertini et al. 2011, Wells 2013).

所含基因

0 个基因