CYP7A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]

本基因编码细胞色素P450超家族酶的一个成员。细胞色素P450蛋白是一类单加氧酶，催化众多药物代谢及胆固醇、类固醇及其他脂质的合成反应。该内质网膜蛋白催化肝脏中胆固醇分解途径中的首次反应，将胆固醇转化为胆汁酸。该反应是胆汁酸合成的限速步骤，亦是胆汁酸合成的调控主要位点，是胆固醇从体内排除的主要机制。该基因启动子区域的突变与胆汁酸合成缺陷相关。[由RefSeq提供，2010年2月]