Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia | Zendy

Taninee Sahakitrungruang | Zendy; Meng Kian Tee | Zendy; Piers R. Blackett | Zendy; Walter L. Miller | Zendy

Open Access

Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

Author(s) -

Taninee Sahakitrungruang,

Meng Kian Tee,

Piers R. Blackett,

Walter L. Miller

Publication year - 2010

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2010-1828

Subject(s) - cholesterol side chain cleavage enzyme , cleavage (geology) , chemistry , enzyme , steroidogenic acute regulatory protein , side chain , endocrinology , medicine , biology , biochemistry , cytochrome p450 , messenger rna , gene , organic chemistry , paleontology , fracture (geology) , polymer

The cholesterol side-chain cleavage enzyme (P450scc), encoded by the CYP11A1 gene, converts cholesterol to pregnenolone to initiate steroidogenesis. Genetic defects in P450scc cause a rare autosomal recessive disorder that is clinically indistinguishable from congenital lipoid adrenal hyperplasia (lipoid CAH). Nonclassic lipoid CAH is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function.

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