3β-hydroxysterol Δ7-reductase and the Smith-Lemli-Opitz syndrome

被引：71
作者：
Correa-Cerro, LS [1 ]
Porter, FD [1 ]
机构：
[1] NICHHD, Unit Mol Dysmorphol, Heritable Disorders Branch, Dept HHS,NIH, Bethesda, MD 20892 USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2005年 / 84卷 / 02期
关键词：
Smith-Lemi-Opitz syndrome; 7-dehydrocholesterol reductase; inborn error of cholesterol synthesis;
D O I：
10.1016/j.ymgme.2004.09.017
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
In the final step of cholesterol synthesis, 7-dehydrocholesterol reductase (DHCR7) reduces the double bond at C7-8 of 7-dehydrocholesterol to yield cholesterol. Mutations of DHCR7 cause Smith-Lemli-Opitz syndrome (SLOS). Over 100 different mutations of DHCR7 have been identified in SLOS patients. SLOS is a classical multiple malformation, mental retardation syndrome, and was the first human malformation syndrome shown to result from an inborn error of cholesterol synthesis. This paper reviews the biochemical, molecular, and mutational aspects of DHCR7. Published by Elsevier Inc.
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页码：112 / 126
页数：15
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