CYP27A1

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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

本基因编码的是细胞色素P450超家族酶的一员。细胞色素P450蛋白是一类单加氧酶，催化许多与药物代谢和胆固醇、类固醇及其他脂质合成相关的反应。此线粒体蛋白作为胆汁合成途径的一部分，氧化胆固醇中间体。鉴于胆固醇转化为胆汁酸是胆固醇从体内排除的主要途径，该蛋白对于胆固醇整体稳态平衡至关重要。此基因的突变可导致 cerebrotendinous xanthomatosis，一种罕见的常染色体隐性脂质储存病。[由RefSeq提供，2008年7月]