Phenotypic Features Associated with Mutations in Steroidogenic Acute Regulatory Protein
نویسندگان
چکیده
منابع مشابه
Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
IMPORTANCE We describe novel ocular phenotypic features caused by mutations in ADAMTS18. The exact role of ADAMTS18 in ocular disease is unclear, and our work further contributes to the understanding of this gene and its protein. OBJECTIVE To expand the phenotypic characterization in patients with homozygous mutations in ADAMTS18 and report novel mutational data. DESIGN, SETTING, AND PARTIC...
متن کاملSteroidogenic Acute Regulatory Protein Expression in the Central Nervous System
Locally produced neurosteroids are proposed to have many functions in the central nervous system. The identification of the steroidogenic acute regulatory protein in steroid-producing neural cells provides a new tool to understand the sites, regulation, and importance of their synthesis.
متن کاملCharacterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
CONTEXT Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). OBJECTIVE StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have...
متن کاملThe steroidogenic acute regulatory protein is expressed in steroidogenic cells of the day-old brain.
Although recent research has focused on the fundamental role(s) of steroids synthesized de novo in the brain on development, the mechanism by which production of these neurosteroids is regulated remains unclear. Steroid production in peripheral tissues is acutely regulated by the steroidogenic acute regulatory (StAR) protein, which mediates the rate-limiting step in steroid biosynthesis: the in...
متن کاملOxysterols regulate expression of the steroidogenic acute regulatory protein.
The steroidogenic acute regulatory (StAR) protein promotes intramitochondrial delivery of cholesterol to the cholesterol side-chain cleavage system, which catalyzes the first enzymatic step in all steroid synthesis. Intriguingly, substrate cholesterol derived from lipoprotein can upregulate StAR gene expression. Moreover, substrate oxysterols have been suggested to also play a role. To investig...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2005
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2005-0434