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Article

Role of Steroidogenic Acute Regulatory Protein in Adrenal and Gonadal Steroidogenesis

24 Mar 1995

Abstract excerpt

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...

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PMID: 7892608
DOI: 10.1126/science.7892608

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