ROLE OF STEROIDOGENIC ACUTE REGULATORY PROTEIN IN ADRENAL AND GONADAL STEROIDOGENESIS
ROLE OF STEROIDOGENIC ACUTE REGULATORY PROTEIN IN ADRENAL AND GONADAL STEROIDOGENESIS
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DOI：
10.1126/science.7892608
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发表时间：
1995-03-24
期刊：
影响因子：
56.9
通讯作者：
MILLER, WL
中科院分区：
文献类型：
--
作者：
LIN, D;SUGAWARA, T;MILLER, WL
先天性肾上腺脂质增生是一种常染色体隐性遗传病，其特征是所有肾上腺和性腺类固醇激素的合成受损。在三个没有关系的患有这种疾病的个体中，促进线粒体将胆固醇转化为孕烯醇酮的类固醇生成急性调节蛋白发生突变并失去功能，这为该蛋白对正常的肾上腺和性腺类固醇生成不可或缺提供了遗传证据。
Congenital lipoid adrenal hyperplasia is an autosomal recessive disorder that is characterized by impaired synthesis of all adrenal and gonadal steroid hormones. In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable for normal adrenal and gonadal steroidogenesis.