AGA - aspartylglucosaminidase Gene

中文名称：天冬氨酰氨基葡萄糖苷酶

种属: Homo sapiens

同用名: GA; AGU; ASRG

关于 AGA

功能概要

该基因编码 N 端亲核试剂 (Ntn) 水解酶蛋白质家族的成员。编码的前原蛋白经过蛋白水解处理，生成包含成熟酶的 α 和 β 链。该酶参与糖蛋白的 N-连接寡糖的分解代谢。它从 N-乙酰葡糖胺中切割天冬酰胺，作为糖蛋白溶酶体分解的最后步骤之一。该基因的突变与导致进行性神经变性的溶酶体贮积病天冬氨酰糖胺尿症有关。选择性剪接会产生多种转录本变体，其中至少有一种会编码一种可进行蛋白水解加工的亚型。[RefSeq 提供，2015 年 11 月]

This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature Enzyme. This Enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]