cyp11a1 การใช้

• Mutations in the CYP11A1 gene result in a steroid hormone deficiency, causing a minority of cases of the rare and potentially fatal condition lipoid congenital adrenal hyperplasia.
• In these cells it has no apparent de novo steroidogenic activity, as evidenced by the lack of the key steroidogenic enzymes cytochrome P450 side chain cleavage ( CYP11A1 ) and 3 beta hydroxysteroid dehydrogenase ( 3?HSD ).
• The trophic hormones increase CYP11A1 gene expression through transcription factors such as steroidogenic factor 1 ( SF-1 ), by the ? isoform of activating protein 2 ( AP-2 ) in the human, and many others.
• The first step in the biosynthesis involves the oxidative cleavage of the side-chain of cholesterol by cholesterol side-chain cleavage enzyme ( P450scc, CYP11A1 ), a mitochondrial cytochrome P450 oxidase with the loss of six carbon atoms to give pregnenolone.
• Over the past 40 years Miller's group at University of California San Francisco has described molecular basis of several metabolic disorders including, congenital adrenal hyperplasia, pseudo vitamin D dependent rickets, severe, recessive form of Ehlers-Danlos syndrome, 17, 20 lyase deficiency caused by CYP17A1 defects, P450scc deficiency caused by CYP11A1 defects, P450 oxidoreductase ( Cytochrome P450 reductase ) deficiency ( also referred as Antley-Bixler syndrome ).