GLA
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1344140
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资源简介：
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
该基因编码一种同源二聚体糖蛋白，该蛋白能够水解从糖脂和糖蛋白中切除末端的α-半乳糖基残基。此酶主要水解神经酰胺三己糖苷，并且能够催化麦芽糖水解生成半乳糖和葡萄糖。该基因的多种突变会影响此酶的合成、加工及稳定性，进而导致法布里病，这是一种罕见的溶酶体储存病，其病理特征为α-D-半乳糖基糖脂残基的分解代谢失败。[由RefSeq提供，2008年7月]
提供机构：
Rat Genome Database
