7-Dehydrocholesterol reductase
7-Dehydrocholesterol Reductase (7-DHCR) is an enzyme that in humans is encoded by the DHCR7 gene. This enzyme catalyzes the reduction of 7-Dehydrocholesterol (7-DHC) to cholesterol, the final step in the cholesterol biosynthesis pathway.
Function[edit]
7-Dehydrocholesterol reductase is a membrane-bound enzyme located in the endoplasmic reticulum. It catalyzes the conversion of 7-dehydrocholesterol to cholesterol, using NADPH as a cofactor. This reaction is the final step in the biosynthesis of cholesterol, a critical component of cellular membranes and a precursor for the synthesis of steroid hormones, bile acids, and vitamin D.
Clinical significance[edit]
Mutations in the DHCR7 gene are associated with Smith-Lemli-Opitz syndrome (SLOS), a congenital disorder characterized by multiple malformations, intellectual disability, and behavioral problems. SLOS is caused by a deficiency in 7-dehydrocholesterol reductase, leading to an accumulation of 7-dehydrocholesterol and a decrease in cholesterol synthesis.
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