(24S)-7alpha,24-dihydroxycholest-4-en-3-one | 2260669-16-5

• 分子结构分类: 有机化合物 - 脂质和类脂质分子 - 类固醇和类固醇衍生物
• 英文名称: (24S)-7alpha,24-dihydroxycholest-4-en-3-one
• 英文别名: (7R,8S,9S,10R,13R,14S,17R)-7-hydroxy-17-[(2R,5S)-5-hydroxy-6-methylheptan-2-yl]-10,13-dimethyl-1,2,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-one
• CAS: 2260669-16-5
• 化学式: C₂₇H₄₄O₃
• 分子量: 416.6
• InChiKey: LFFHZNXDGBQZCO-GXKBHXPCSA-N

计算性质

• 辛醇/水分配系数(LogP)：
  5.8
• 重原子数：
  30
• 可旋转键数：
  5
• 环数：
  4.0
• sp3杂化的碳原子比例：
  0.89
• 拓扑面积：
  57.5
• 氢给体数：
  2
• 氢受体数：
  3

反应信息

• 作为产物：
  描述：

  (24S)-cholest-5-ene-3β,7α,24-triol 、 nicotinamide adenine dinucleotide 生成 (24S)-7alpha,24-dihydroxycholest-4-en-3-one 、 氢(+1)阳离子 、 NADH
  参考文献：
  名称：

  The bile acid synthetic gene 3β-hydroxy-Δ5-C27-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis

  摘要：

  We used expression cloning to isolate cDNAs encoding a microsomal 3 beta -hydroxy-Delta (5)-C-27-steroid oxidoreductase (C-27 3 beta -HSD) that is expressed predominantly in the liver. The predicted product shares 34% sequence identity with the C-19 and C-21 3 beta -HSD enzymes, which participate in steroid hormone metabolism. When transfected into cultured cells, the cloned C-27 3 beta -HSD cDNA encodes an enzyme that is active against four 7 alpha -hydroxylated sterols, indicating that a single C-27 3 beta -HSD enzyme can participate in all known pathways of bile acid synthesis. The expressed enzyme did not metabolize several different C-19/21 steroids as substrates. The levels of hepatic C-27 3 beta -HSD mRNA in the mouse are not sexually dimorphic and do not change in response to dietary cholesterol or to changes in bile acid pool size. The corresponding human gene on chromosome 16p11.2-12 contains six exons and spans 3 kb of DNA, and we identified a 2-bp deletion in the C-27 3 beta -HSD gene of a patient with neonatal progressive intrahepatic cholestasis. This mutation eliminates the activity of the enzyme in transfected cells. These findings establish the central role of C-27 3 beta -HSD in the biosynthesis of bile acids and provide molecular tools for the diagnosis of a third type of neonatal progressive intrahepatic cholestasis associated with impaired bile acid synthesis.

  DOI：

  10.1172/jci10902