ABCA1 p.Pro692Ser
| Predicted by SNAP2: | A: N (66%), C: N (82%), D: D (63%), E: D (53%), F: N (66%), G: D (53%), H: D (63%), I: N (72%), K: D (59%), L: N (78%), M: N (72%), N: D (53%), Q: N (66%), R: D (66%), S: N (72%), T: N (78%), V: N (82%), W: D (71%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, Q: N, R: D, S: D, T: N, V: N, W: D, Y: D, |
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[hide] NPC1, intracellular cholesterol trafficking and at... Clin Chim Acta. 2014 Feb 15;429:69-75. doi: 10.1016/j.cca.2013.11.026. Epub 2013 Dec 1. Yu XH, Jiang N, Yao PB, Zheng XL, Cayabyab FS, Tang CK
NPC1, intracellular cholesterol trafficking and atherosclerosis.
Clin Chim Acta. 2014 Feb 15;429:69-75. doi: 10.1016/j.cca.2013.11.026. Epub 2013 Dec 1., [PMID:24296264]
Abstract [show]
Post-lysosomal cholesterol trafficking is an important, but poorly understood process that is essential to maintain lipid homeostasis. Niemann-Pick type C1 (NPC1), an integral membrane protein on the limiting membrane of late endosome/lysosome (LE/LY), is known to accept cholesterol from NPC2 and then mediate cholesterol transport from LE/LY to endoplasmic reticulum (ER) and plasma membrane in a vesicle- or oxysterol-binding protein (OSBP)-related protein 5 (ORP5)-dependent manner. Mutations in the NPC1 gene can be found in the majority of NPC patients, who accumulate massive amounts of cholesterol and other lipids in the LE/LY due to a defect in intracellular lipid trafficking. Liver X receptor (LXR) is the major positive regulator of NPC1 expression. Atherosclerosis is the pathological basis of coronary heart disease, one of the major causes of death worldwide. NPC1 has been shown to play a critical role in the atherosclerotic progression. In this review, we have summarized the role of NPC1 in regulating intracellular cholesterol trafficking and atherosclerosis.
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No. Sentence Comment
719 It can bind azocholestanol, a photoactivatable analog of cholesterol, in cells, and two loss-of-function mutations (P692S and Y635C) in the region severely block this effect [8].
X
ABCA1 p.Pro692Ser 24296264:719:116
status: NEW