ROLE OF STEROIDOGENIC ACUTE REGULATORY PROTEIN IN ADRENAL AND GONADAL STEROIDOGENESIS

被引：804

作者：

LIN, D

SUGAWARA, T

STRAUSS, JF

CLARK, BJ

STOCCO, DM

SAENGER, P

ROGOL, A

MILLER, WL

机构：

[1] UNIV PENN, SCH MED, DEPT OBSTET & GYNECOL, PHILADELPHIA, PA 19104 USA

[2] TEXAS TECH UNIV, HLTH SCI CTR, DEPT BIOCHEM & CELL BIOL, LUBBOCK, TX 79430 USA

[3] MONTEFIORE MED CTR, ALBERT EINSTEIN COLL MED, DEPT PEDIAT, BRONX, NY 10467 USA

[4] UNIV VIRGINIA, HLTH SCI CTR, DEPT PEDIAT, CHARLOTTESVILLE, VA 22908 USA

[5] UNIV VIRGINIA, HLTH SCI CTR, DEPT PHARMACOL, CHARLOTTESVILLE, VA 22908 USA

[6] UNIV CALIF SAN FRANCISCO, DEPT PEDIAT, SAN FRANCISCO, CA 94143 USA

[7] UNIV CALIF SAN FRANCISCO, METAB RES UNIT, SAN FRANCISCO, CA 94143 USA

来源：

SCIENCE | 1995年 / 267卷 / 5205期

关键词：

D O I：

10.1126/science.7892608

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1828 / 1831

页数：4

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