Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
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.
Waterham
H R
HR
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
Wanders
R J
RJ
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
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