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Details on Person Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11...
| Class:Id | Summation:5580239 |
|---|---|
| _displayName | Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11... |
| _timestamp | 2014-06-10 10:39:16 |
| created | [InstanceEdit:5580263] Jassal, Bijay, 2014-06-09 |
| modified | [InstanceEdit:5580323] Jassal, Bijay, 2014-06-10 |
| text | Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1) normally catalyses the side-chain cleavage of cholesterol to form pregnenolone. Defects in CYP11A1 can cause Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR; MIM:613743). This is a rare disorder that can present as acute adrenal insufficiency in infancy with elevated ACTH and plasma renin activity and low or absent adrenal steroids. The severest phenotype is loss-of-function mutations associated with prematurity, complete under-androgenisation and severe, early-onset adrenal failure (Kim et al. 2008). |
| (summation) | [Pathway:5579026] Defective CYP11A1 causes AICSR [Homo sapiens] |
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No pathways have been reviewed or authored by Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11... (5580239)
