PMID: 24296264

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., [PubMed]
Sentences
No. Mutations Sentence Comment
719 ABCA1 p.Pro692Ser
X
ABCA1 p.Pro692Ser 24296264:719:116
status: NEW
view ABCA1 p.Pro692Ser details
 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]. Login to comment