Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

D Lin, T Sugawara, JF Strauss III, BJ Clark, DM Stocco… - Science, 1995 - science.org
D Lin, T Sugawara, JF Strauss III, BJ Clark, DM Stocco, P Saenger, A Rogol, WL Miller
Science, 1995science.org
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 for normal
adrenal and gonadal steroidogenesis.
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 for normal adrenal and gonadal steroidogenesis.
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