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Review
. 2016 Oct:64:138-151.
doi: 10.1016/j.plipres.2016.09.003. Epub 2016 Sep 30.

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

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Review

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

Anika V Prabhu et al. Prog Lipid Res. 2016 Oct.

Abstract

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.

Keywords: 7-Dehydrocholesterol; 7-Dehydrocholesterol reductase; Cholesterol; Smith-Lemli-Opitz syndrome; Vitamin D(3).

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