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• W1997517812 abstract "ATP-binding cassette (ABC) transporters comprise a superfamily of proteins, which actively transport a variety of compounds across cell membranes. Mammalian and most eukaryotic ABC transporters function as exporters, flipping or extruding substrates from the cytoplasmic to the extracellular or lumen side of cell membranes. Prokaryotic ABC transporters function either as exporters or importers. Here we show that ABCA4, an ABC transporter found in retinal photoreceptor cells and associated with Stargardt macular degeneration, is a novel importer that actively flips N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of disc membranes, thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptors. ABCA4 also actively transports phosphatidylethanolamine in the same direction. Mutations known to cause Stargardt disease decrease N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine transport activity of ABCA4. These studies provide the first direct evidence for a mammalian ABC transporter that functions as an importer and provide insight into mechanisms underlying substrate transport and the molecular basis of Stargardt disease. In mammalian cells, ABC transporter proteins were thought to exclusively export a range of substrates out of cells. Quazi and colleagues show that, in retinal photoreceptor cells, ABCA4 is acting as an importer of phospholipids and that mutations known to cause Stargardt disease decrease its activity." @default.
• W1997517812 created "2016-06-24" @default.
• W1997517812 creator A5031620336 @default.
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• W1997517812 creator A5086356122 @default.
• W1997517812 date "2012-06-26" @default.
• W1997517812 modified "2023-10-16" @default.
• W1997517812 title "ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer" @default.
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• W1997517812 doi "https://doi.org/10.1038/ncomms1927" @default.
• W1997517812 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3871175" @default.
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• W1997517812 hasPublicationYear "2012" @default.
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