DHCR7: A vital enzyme switch between cholesterol and vitamin D production

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• 作者：Anika V. Prabhu^a ; Winnie Luu^a ; Dianfan Li^b ; Laura J. Sharpe^a ; Andrew J. Brown^a ; ^{aj.brown@unsw.edu.au}
• 关键词：7DHC ; 7-dehydrocholesterol ; AEBS ; antiestrogen binding site ; DHCR7 ; 7-dehydrocholesterol reductase ; DHCR14 ; Δ14-sterol reductase ; DHCR24 ; 24-dehydrocholesterol reductase ; EBP ; emopamil binding protein ; Hh ; Hedgehog ; HMGCR ; 3-hydroxy-3-methylglutaryl-CoA reductase ; LBR ; lamin B receptor ; MaSR1 ; Methylomicrobium alcaliphilum 20Z sterol reductase ; NADPH ; nicotinamide adenine dinucleotide phosphate ; NADSYN1 ; nicotinamide adenine dinucleotide synthetase 1 ; SNP ; single nucleotide polymorphism ; SLOS ; S
• 刊名：Progress in Lipid Research
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：64
• 期：Complete
• 页码：138-151
• 全文大小：1916 K
• 卷排序：64

文摘

The conversion of 7-dehydrocholesterol to cholesterol, the final step of cholesterol synthesis in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol reductase (DHCR7). Homozygous or compound heterozygous mutations in DHCR7 lead to the developmental disease Smith-Lemli-Opitz syndrome, which can also result in fetal mortality, highlighting the importance of this enzyme in human development and survival. Besides serving as a substrate for DHCR7, 7-dehydrocholesterol is also a precursor of vitamin D via the action of ultraviolet light on the skin. Thus, DHCR7 exerts complex biological effects, involved in both cholesterol and vitamin D production. Indeed, we argue that DHCR7 can act as a switch between cholesterol and vitamin D synthesis. This review summarizes current knowledge about the critical enzyme DHCR7, highlighting recent findings regarding its structure, transcriptional and post-transcriptional regulation, and its links to vitamin D synthesis. Greater understanding about DHCR7 function, regulation and its place within cellular metabolism will provide important insights into its biological roles.