Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency

• Published in: Steroids Vol. 62; no. 1; pp. 176 - 184
• Main Authors: Morel, Yves, Mébarki, Farida, Rhéaume, Eric, Sanchez, Rocio, Forest, Maguelone G., Simard, Jacques
• Format: Journal Article Conference Proceeding
• Language: English
• Published: New York, NY Elsevier Inc 1997; Elsevier Science
• Subjects: 3-Hydroxysteroid Dehydrogenases - deficiency; 3-Hydroxysteroid Dehydrogenases - genetics; 3-Hydroxysteroid Dehydrogenases - metabolism; 3β-hydroxysteroid dehydrogenase; Adolescent; Amino Acid Sequence; Animals; Binding Sites; Biological and medical sciences; Cattle; Cell Membrane - enzymology; Child; Child, Preschool; Cricetinae; Disorders of Sex Development - genetics; Disorders of Sex Development - metabolism; Female; Fundamental and applied biological sciences. Psychology; Humans; Infant, Newborn; Isoenzymes; isomerase; Male; Metabolic Diseases - genetics; Mice; Molecular Sequence Data; Mutagenesis; Mutation; NAD; Phenotype; Rats; Sequence Homology, Amino Acid; short-chain alcohol dehydrogenase; Steroid hormones. Cholecalciferol derivatives; Steroids - metabolism; Structure-Activity Relationship; Vertebrates: endocrinology; Virilism - genetics; Virilism - metabolism; Δ5-steroid; NAD; Δ5-steroid; 3β-hydroxysteroid dehydrogenase; short-chain alcohol dehydrogenase; isomerase; Human; Enzyme; Deficiency; Binding site; Steroidogenesis; Oxidoreductases; Mutation; Aminoacid sequence

The transformation of Δ5-3β-hydroxysteroids into the corresponding Δ4-3-keto-steroids is an essential step for the biosynthesis of all classes of active steroids: progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. These steroid hormones play a crucial role in the differenti...