·文献综述·

　　【提要】 葡萄糖-6-磷酸酶(G6P)催化葡萄糖-6-磷酸水解成葡萄糖与无机磷酸盐。它是由一种结合膜蛋白系统,在内质网构成的多成份系统，包括葡萄糖-6-磷酸酶催化亚基(G6PC)和G6P转运蛋白，无机磷酸盐和葡萄糖。G6PC基因家族包括3个成员，G6PC、葡萄糖-6-磷酸酶催化亚基-2(G6PC2)和葡萄糖-6-磷酸酶催化亚基3(G6PC3)。这些基因在不同组织特异性的表达模式和突变与人类不同的疾病相关联。G6PC2属于G6PC家族蛋白，G6PC2过度表达能增加G6P的活性。其可能抑制参与葡萄糖利用和葡萄糖刺激的胰岛素分泌的葡萄糖激酶活性。此外，在几种糖尿病动物模型中胰岛G6PC2活性增加。本文主要介绍G6PC2基因多态性与血糖调节及糖尿病的联系和转录调节以及编码蛋白的生物学功能。

　　【关键词】 葡萄糖-6-磷酸酶催化亚基-2;基因多态性;糖尿病

　　【Summary】 Glucose-6-phosphatase(G6P) catalyzes the hydrolysis of glucose 6-phosphate (G6P) to glucose and inorganic phosphate. It is a multicomponent system located in the endoplasmic reticulum that comprises several integral membrane proteins, namely catalytic subunit (G6PC) and transporters for G6P, inorganic phosphate and glucose. The G6PC gene family contains three members, designated G6PC, G6PC2 and G6PC3. The tissue specific expression patterns of these genes differ, and mutations in all three genes link to distinct diseases in humans. This review discusses the disease association and transcriptional regulation of the G6PC genes as well as the biological functions of the encoded proteins.

　　【Key words】 Glucose-6-phosphatase catalytic unit 2; Genetic polymorphism; Diabetes mellitus