ABCB4 p.Gln537Arg
| Predicted by SNAP2: | A: D (75%), C: D (75%), D: D (85%), E: D (71%), F: D (85%), G: D (80%), H: D (80%), I: D (85%), K: D (91%), L: D (85%), M: D (80%), N: D (80%), P: D (91%), R: D (91%), S: D (75%), T: D (80%), V: D (80%), W: D (85%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] ABC transporters in cellular lipid trafficking. Curr Opin Lipidol. 2000 Oct;11(5):493-501. Schmitz G, Kaminski WE, Orso E
ABC transporters in cellular lipid trafficking.
Curr Opin Lipidol. 2000 Oct;11(5):493-501., [PMID:11048892]
Abstract [show]
ATP-binding cassette (ABC) transporters constitute a group of evolutionary highly conserved cellular transmembrane transport proteins. Recent work has implicated ABC transporters in cellular transmembrane lipid transport and hereditary diseases have been causatively linked to defective ABC transporters translocating lipid compounds. The emerging concept that a defined subset of ABC transporters is intimately involved in cellular lipid trafficking has recently been substantiated convincingly by the finding that ABCA1 plays a central role in the regulation of HDL metabolism and macrophage targeting to the RES or the vascular wall. Differentiation dependent expression of a large number of ABC transporters in monocytes/macrophages and their regulation by sterol flux render these transporter molecules potentially critical players in atherogenesis and other chronic inflammatory diseases.
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No. Sentence Comment
22 In contrast, MDR3 speci®cally translocates phosphatidylcholine [8] and is required for phosphatidylcholine secretion into bile as evidenced by the ®nding that disruption of the murine MDR3 homolog, MDR2, Atherosclerosis: cell biology and lipoproteins494 ATP ATP ATP ATP ATP ATP M TM (TM-ABC)2(TM-ABC)2TM-ABC 12 8 5 18 7 19 16 1 9 4 10 17 NH2 11 6 2 extracellular COOH 15 21 20 14 (exon)5040 TM7-12 ATP 30 ATPTM1-6 2010 Position Mutation CHD Splenomegaly Source 1 del1764 stop + - [25,27] 2 N1740H + - [66] 3 del L633 + - [26] 4 R527W + - [39] 5 del 2 nt - + [22] (nt 3283) 6 3´ del - + [25] 7 N875S - + [25] 8 D1229L - - [26] 9 Q537R - - [26] 10 del755 stop + - [66] 11 C1417R + - [26] 12 G/C splice donor + - [26] site (intron 24) 13 ins 138 nt - yellow tonsils [39] (nt 5062) 14 ins 14 nt - yellow tonsils [39] (nt 5697) 15 ins 6513 stop - + [66] 16 A877V - + [25] 17 W530S - + [25] 18 R849 stop - + [67] 19 M1031T + [67] 20 del E1832 - [67] del D1834 21 R2084 stop + + [67] 3 13 ATP ATP 1 (a) (b) (c) (d) Figure 1.
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ABCB4 p.Gln537Arg 11048892:22:643
status: NEW