Sterol Reductases

Moebius, Fabian F.; Fitzky, Barbara U.; Glossmann, Hartmut

doi:10.1002/0471203076.emm0566

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2020

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“…7-dehydrocholesterol reductase (DHCR7) is an enzyme that catalyzes 7-dehydrocholesterol (7-DHC) to cholesterol, a final step in the biogenesis of cholesterol (Moebius et al, 1998). DHCR7 mutations in humans cause a clinical autosomal recessive genetic disease, namely Smith-Lemli-Opitz syndrome (SLOS), which is characterized with multiple abnormalities including growth deficiency, intellectual disability, and frequent infections (Babovic-Vuksanovic et al, 2005;Francis et al, 2016;Ostergaard et al, 1992).…”

Section: Introductionmentioning

confidence: 99%