ABCC2 p.Arg121*
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[hide] Dietary cholesterol absorption; more than just bil... Trends Endocrinol Metab. 2001 Sep;12(7):314-20. Lu K, Lee MH, Patel SB
Dietary cholesterol absorption; more than just bile.
Trends Endocrinol Metab. 2001 Sep;12(7):314-20., [PMID:11504671]
Abstract [show]
Absorption of dietary cholesterol from the intestine is an important part of cholesterol homeostasis and represents the first step that allows dietary cholesterol to exert its metabolic effects. Although the role of bile salts in the initial absorption of dietary cholesterol, by the formation of emulsions, is readily appreciated, the recognition that other molecular mechanisms might govern this process is only recently gaining momentum. Not only does the intestine regulate the amount of dietary cholesterol that enters the body; it is very selective with regard to the sterols that are allowed in. The human intestine is responsible for absorbing a significant amount of cholesterol each day. In addition to approximately 0.5 g d(-1) of dietary cholesterol, many other sterols are also present in almost equal abundance in the normal diet. Approximately 0.4 g of plant sterols, such as sitosterol, brassicasterol and avanesterol, are also present. However, the human body seems to allow only cholesterol to enter and remain in the body, with almost negligible amounts of plant sterols being retained. That specific molecular mechanisms are responsible for this behavior is supported by the identification of the genetic defect(s) in a rare disorder, beta-sitosterolemia (MIM 210250), where this process is disrupted. Such studies are now beginning to throw light on sterol absorption and excretion and elucidate the molecular mechanisms that govern these processes.
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124 Clinical studies show that affected individuals have an TRENDS in Endocrinology & Metabolism Vol.12 No.7 September 2001 http://tem.trends.com 317Review Y658X R121X Q172X W361X L596RA632V R243X R419H/P Q604E Lumen Cytosol 'A' 'A' 'C' 'B' 'C' 'B' C C G574E/R G575R L572P R543S W536 L501P T400K Sterolin-1 Sterolin-2N N R408 R389H TRENDS in Endocrinology & Metabolism Fig. 1.
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ABCC2 p.Arg121* 11504671:124:158
status: NEW