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PMID: 7892608 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis.

Science (New York, N.Y.) ·Vol. 267 ·No. 5205 ·1995-03-24 ·Pages 1828-31

Lin D, Sugawara T, Strauss JF, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL

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.

Related Genes
StAR
MeSH Terms
Adrenal Glands/metabolism Adrenal Hyperplasia, Congenital/metabolism Amino Acid Sequence Animals Base Sequence Biological Transport/physiology Cell Line Cholesterol/metabolism Female Gonads/metabolism Haplorhini Hormones/biosynthesis Humans Male Mitochondria/metabolism Molecular Sequence Data Phosphoproteins/genetics,physiology Point Mutation Steroids/biosynthesis Transfection
Chemicals
Hormones Phosphoproteins Steroids steroidogenic acute regulatory protein Cholesterol
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Lin D
Department of Pediatrics, University of California, San Francisco 94143.
Sugawara T
Strauss J F
Clark B J
Stocco D M
Saenger P
Rogol A
Miller W L
Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
0036-8075
DOI
10.1126/science.7892608
Published
1995-03-24
Pages
1828-31
Language
English
Region
United States
NLM ID
0404511
Subset
IM
Grants
NICHD NIH HHS · HD 06274 · United States
NICHD NIH HHS · HD 07688 · United States
NICHD NIH HHS · HD 28825 · United States
Corrections
CommentIn
PMID: 7892600
External Links
PubMed source DOI: 10.1126/science.7892608 View journal details
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