Publication Date:
1995-03-24
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lin, D -- Sugawara, T -- Strauss, J F 3rd -- Clark, B J -- Stocco, D M -- Saenger, P -- Rogol, A -- Miller, W L -- HD 06274/HD/NICHD NIH HHS/ -- HD 07688/HD/NICHD NIH HHS/ -- HD 28825/HD/NICHD NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1995 Mar 24;267(5205):1828-31.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pediatrics, University of California, San Francisco 94143.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7892608" target="_blank"〉PubMed〈/a〉
Keywords:
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
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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