title: Diseases of intramembranous lipid transport.
abstract: The maintenance of transbilayer distribution of phospholipids is crucial for proper cell function. Intramembrane transport of lipids is mediated by three activities termed floppases, flippases, and scramblases. Members of the ATP-binding cassette transporter family and P-type ATPase superfamily have been implicated in the translocation of lipids. The importance of these activities is exemplified by several severe human inherited disorders that are caused by defects in intramembranous transport of lipids. In order to elucidate the molecular mechanisms that underlie these disorders, the combination of in vivo, biochemical, and structural analyses on intramembrane transporters is crucial.
authors.affiliation: Amsterdam Liver Center, Department of Experimental Hepatology, Academic Medical Center, Meibergdreef 69-71, S-1-168, 1105 BK Amsterdam, The Netherlands. c.c.paulusma@amc.uva.nl
authors.forename: Coen C
authors.initials: CC
authors.lastname: Paulusma
authors.forename: Ronald P J
authors.initials: RP
authors.lastname: Oude Elferink
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000172:deficiency / Q000378:metabolism; D000818:Animals; D001692:Biological Transport; D002462:Cell Membrane / Q000378:metabolism*; D004194:Disease; D006801:Humans; D050356:Lipid Metabolism
chemical_list: D018528:ATP-Binding Cassette Transporters; D000251:Adenosine Triphosphatases