title: Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis.
abstract: Congenital lipoid adrenal hyperplasia is an autosomal recessive disorder that is characterized by impaired synthesis of all adrenal and gonadal steroid hormones. In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable normal adrenal and gonadal steroidogenesis.
authors.affiliation: Department of Pediatrics, University of California, San Francisco 94143.
authors.forename: D
authors.initials: D
authors.lastname: Lin
authors.forename: T
authors.initials: T
authors.lastname: Sugawara
authors.forename: J F
authors.initials: JF
authors.lastname: Strauss
authors.forename: B J
authors.initials: BJ
authors.lastname: Clark
authors.forename: D M
authors.initials: DM
authors.lastname: Stocco
authors.forename: P
authors.initials: P
authors.lastname: Saenger
authors.forename: A
authors.initials: A
authors.lastname: Rogol
authors.forename: W L
authors.initials: WL
authors.lastname: Miller
mesh_terms: D000311:Adrenal Glands / Q000378:metabolism*; D000312:Adrenal Hyperplasia, Congenital / Q000378:metabolism; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001692:Biological Transport / Q000502:physiology; D002460:Cell Line; D002784:Cholesterol / Q000378:metabolism*; D005260:Female; D006066:Gonads / Q000378:metabolism*; D000882:Haplorhini; D006728:Hormones / Q000096:biosynthesis*; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D008969:Molecular Sequence Data; D010750:Phosphoproteins / Q000235:genetics / Q000502:physiology*; D017354:Point Mutation; D013256:Steroids / Q000096:biosynthesis*; D014162:Transfection; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D006728:Hormones; D010750:Phosphoproteins; D013256:Steroids; D000098682:Steroidogenic Acute Regulatory Protein; D002784:Cholesterol