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. 1995 Mar 24;267(5205):1828-31.
doi: 10.1126/science.7892608.

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

D Lin  1 , T Sugawara, J F Strauss 3rd, B J Clark, D M Stocco, P Saenger, A Rogol, W L Miller
Affiliations

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

D Lin et al. Science. .

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.

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