title: Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
abstract: The Smith-Lemli-Opitz syndrome is a disorder of morphogenesis resulting from an enzymatic defect in the last step of cholesterol metabolism (reduction of 7-dehydrocholesterol). Analysis of the defective gene and identification of mutations therein have paved the way for the study of the molecular genetics of the disorder which is caused by numerous different mutations. Future efforts should identify a postulated intracellular signalling activity of sterol intermediates, isolate proteins that govern the sterol traffic between intracellular compartments, structurally characterize the enzyme delta 7-sterol reductase defective in the Smith-Lemli-Opitz syndrome and investigate the pathomechanism of sterol depletion-induced dysmorphogenesis.
mesh_terms: D002384:Catalysis; D002784:Cholesterol / Q000096:biosynthesis; D006801:Humans; D008954:Models, Biological; D009024:Morphogenesis; D010088:Oxidoreductases / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D044925:Oxidoreductases Acting on CH-CH Group Donors; D019082:Smith-Lemli-Opitz Syndrome / Q000209:etiology / Q000235:genetics*; D013185:Squalene / Q000378:metabolism*; D013261:Sterols / Q000378:metabolism*