CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the mitochondria. It is most prominently involved in the biosynthesis of bile acids.

2024年12月24日 · CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP27A1 include Cerebrotendinous Xanthomatosis and Xanthomatosis. Among its related pathways are Synthesis of bile acids and bile salts and Oxidation by cytochrome P450.

细胞色素 P450 27A1 （英語： Cytochrome P450 27A1，缩写 CYP27A1）也被称为 甾醇-27-羟化酶 （sterol 27-hydroxylase， EC 1.14.15.15），是 细胞色素P450 超家族的一员，由 CYP27A1 基因编码，是定位于许多不同组织 线粒体内膜 的 单加氧酶，能催化多种 甾醇 侧链上27号位以及其它位置的 羟基化，如在 胆汁酸 合成中催化 胆固醇 生成 27-羟基胆固醇 [6]，在 维生素D 合成代谢中催化 胆钙化醇 （维生素D 3）生成 骨化二醇 （25-羟基维生素D 3） [7]。 ^ 與CYP27A1相 …

CYP27A1 is a critical cellular cholesterol sensor in prostate cells and that dysregulation of the CYP27A1/27-hydroxycholesterol (27HC) axis contributes significantly to prostate cancer pathogenesis. CYP27A1 catalyzes hydroxylation of beta-sitosterol and ergosterol

Mitochondrial sterol 27-hydroxylase (CYP27A1) catalyzes oxidative cleavage of the sterol side chain in the bile acid biosynthetic pathway in the liver and 27-hydroxylation of cholesterol in most tissues. Recent studies suggest that 27-hydroxycholesterol (27-HOC) activates liver orphan receptor alpha …

2024年12月27日 · The expression of CYP27A1 modulates the concentrations of active glucocorticoids in both humans and mice and in vitro. Loss of CYP27A1 led to dysregulation of retinal cholesterol homeostasis, including unexpected upregulation of …

The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme is located in the energy-producing centers of cells (mitochondria), where it is involved in the pathway that breaks down cholesterol to form acids used to digest fats (bile acids).

该基因编码细胞色素 P450 酶超家族的成员。 细胞色素 P450 蛋白是单加氧酶，可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。 作为胆汁合成途径的一部分，这种线粒体蛋白氧化胆固醇中间体。 由于将胆固醇转化为胆汁酸是从体内清除胆固醇的主要途径，因此这种蛋白质对于总体胆固醇稳态很重要。 该基因的突变会导致脑腱黄瘤病，这是一种罕见的常染色体隐性脂质贮积病。 [RefSeq 提供，2008 年 7 月] This gene encodes a member of the Cytochrome P450 …

2024年4月7日 · Clinical resource with information about CYP27A1, Cholestanol storage disease, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

CYP27A1 is a liver mitochondrial CYP with a homolog in >190 species, that is 531 amino acids in size in the human, and was originally cloned from rabbit but also from human [33,34].