DHCR7: A vital enzyme switch between cholesterol and vitamin D production
- Prog Lipid Res. 2016 Oct:64:138-151. doi: 10.1016/j.plipres.2016.09.003.
- 1. School of Biotechnology and Biomolecular Sciences, The University of New South Wales, Sydney, NSW, Australia.
- 2. National Center for Protein Sciences, State Key Laboratory of Molecular Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
- 3. School of Biotechnology and Biomolecular Sciences, The University of New South Wales, Sydney, NSW, Australia. Electronic address: [email protected].
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.