Diseases of intramembranous lipid transport

AbstractThe 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