title: Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
abstract: In recent years, several inherited human disorders caused by defects in cholesterol biosynthesis have been identified. These are characterized by malformations, multiple congenital anomalies, mental and growth retardation and/or skeletal and skin abnormalities indicating a pivotal role of cholesterol in morphogenesis and embryonic development. The first recognized and most common of these developmental disorders is Smith-Lemli-Opitz syndrome, an autosomal recessive trait caused by mutations in the DHCR7 gene resulting in a deficiency of the encoded sterol Delta(7)-reductase, alternatively called 7-dehydrocholesterol reductase (EC 1.3.1.21). This enzyme catalyzes the final step in cholesterol biosynthesis, which is the reduction of the Delta(7) double bond of 7-dehydrocholesterol to produce cholesterol.
authors: Laboratory for Genetic Metabolic Diseases (F0-224), Department of Paediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands. h.r.waterham@amc.uva.nl
authors: H R
authors: HR
authors: Waterham
authors: R J
authors: RJ
authors: Wanders
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000097:blood; D002784:Cholesterol / Q000096:biosynthesis* / Q000097:blood; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000096:biosynthesis; D003684:Dehydrocholesterols / Q000097:blood / Q000378:metabolism; D004195:Disease Models, Animal; D006579:Heterozygote; D006801:Humans; D008956:Models, Chemical; D008958:Models, Molecular; D009154:Mutation; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D015398:Signal Transduction; D019082:Smith-Lemli-Opitz Syndrome / Q000196:embryology / Q000201:enzymology* / Q000235:genetics / Q000473:pathology
chemical_list: D015415:Biomarkers; D018076:DNA, Complementary; D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase