3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
In the final step of cholesterol synthesis, 7-dehydrocholesterol reductase (DHCR7) reduces the double bond at C7-8 of 7-dehydrocholesterol to yield cholesterol. Mutations of DHCR7 cause Smith-Lemli-Opitz syndrome (SLOS). Over 100 different mutations of DHCR7 have been identified in SLOS patients. SLOS is a classical multiple malformation, mental retardation syndrome, and was the first human malformation syndrome shown to result from an inborn error of cholesterol synthesis. This paper reviews the biochemical, molecular, and mutational aspects of DHCR7.
Correa-Cerro
Lina S
LS
Unit on Molecular Dysmorphology, Heritable Disorders Branch, Department of Health and Human Services, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Porter
Forbes D
FD
D000595:Amino Acid Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology* / Q000235:genetics
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase