DHCR7 enzyme (gene) synthesizes cholesterol or vitamin D (when UVB is available)

Created October 2016

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

Progress in Lipid Research, online 30 Sept 2016, http://dx.doi.org/10.1016/j.plipres.2016.09.003

Anika V. Prabhua, Winnie Luua, Dianfan Lib, Laura J. Sharpea, Andrew J. Browna, ,

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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.

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Outline

  1. Introduction

1.1. The history of DHCR7

  1. Implications in Human Health And Disease

2.1. Smith-Lemli-Opitz syndrome

2.2. Health effects of 7-dehydrocholesterol and its derivatives

2.3. Role of sterols in embryogenesis

2.4. Vitamin D3 status

  1. Characterization of The DHCR7 protein

3.1. DHCR7 topology and structure

3.2. Important domains of DHCR7

3.3. Evolution of DHCR7

  1. Regulation of DHCR7

4.1. Transcriptional regulation of DHCR7

4.2. Post-transcriptional regulation of DHCR7

  1. Concluding Remarks

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Tags: Cholesterol Genetics