菜单 基因医生

葡萄糖-6-磷酸酶（Glucose-6-phosphatase，G6Pase）是一种内质网多亚单位膜蛋白，由G6P、无机磷和葡萄糖的催化亚单位和转运子组成该基因（G6PC）是人类葡萄糖-6-磷酸酶催化亚基编码基因G6PC、G6PC2和G6PC3中的一个葡萄糖-6-磷酸酶催化d-葡萄糖-6-磷酸水解为d-葡萄糖和正磷酸盐，是葡萄糖稳态的关键酶，在糖异生和糖原分解中发挥作用。该基因突变可导致I型糖原贮积病（GSD1）。这种疾病也被称为von gierke病，是一种代谢紊乱，其特征是严重的低血糖症，与肝肾中糖原和脂肪的积聚有关。
Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]