Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):340-56. doi: 10.1016/s1388-1981(00)00159-1.


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 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Biomarkers / blood
  • Cholesterol / biosynthesis*
  • Cholesterol / blood
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA, Complementary / biosynthesis
  • Dehydrocholesterols / blood
  • Dehydrocholesterols / metabolism
  • Disease Models, Animal
  • Heterozygote
  • Humans
  • Models, Chemical
  • Models, Molecular
  • Mutation*
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics*
  • Oxidoreductases / metabolism
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Signal Transduction
  • Smith-Lemli-Opitz Syndrome / embryology
  • Smith-Lemli-Opitz Syndrome / enzymology*
  • Smith-Lemli-Opitz Syndrome / genetics
  • Smith-Lemli-Opitz Syndrome / pathology


  • Biomarkers
  • DNA, Complementary
  • Dehydrocholesterols
  • Cholesterol
  • 7-dehydrocholesterol
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase