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细胞色素P450的临床重要性。

Clinical importance of the cytochromes P450.

作者信息

Nebert Daniel W, Russell David W

机构信息

Center for Environmental Genetics and Department of Environmental Health, University of Cincinnati Medical Center, Cincinnati, OH 45267-0056, USA.

出版信息

Lancet. 2002 Oct 12;360(9340):1155-62. doi: 10.1016/S0140-6736(02)11203-7.

Abstract

The human cytochrome P450 (CYP) superfamily comprises 57 genes. These genes code for enzymes that can have a role in: metabolism of drugs, foreign chemicals, arachidonic acid and eicosanoids; cholesterol metabolism and bile-acid biosynthesis; steroid synthesis and metabolism; vitamin D(3) synthesis and metabolism; retinoic acid hydroxylation; and those of still unknown function. Cytochrome P450 was once believed to be mainly a hepatic drug detoxication system, but is now understood to include a myriad of enzymic reactions implicated in important life processes. Mutations in many CYP genes cause inborn errors of metabolism and contribute to many clinically relevant diseases.

摘要

人类细胞色素P450(CYP)超家族由57个基因组成。这些基因编码的酶可参与以下过程:药物、外来化学物质、花生四烯酸和类二十烷酸的代谢;胆固醇代谢和胆汁酸生物合成;类固醇合成与代谢;维生素D(3)合成与代谢;视黄酸羟基化;以及功能尚不明的反应。细胞色素P450曾被认为主要是肝脏药物解毒系统,但现在人们认识到它包括许多与重要生命过程相关的酶促反应。许多CYP基因的突变会导致先天性代谢缺陷,并引发许多临床相关疾病。

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