The ABCA subfamily--gene and protein structures, functions and associated hereditary diseases.
To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been mostly related with lipid trafficking in a wide range of body locations. Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment. The objective of this review is to summarize the literature for this subfamily of ABC transporter proteins, excluding ABCA1 and ABCA4, which will be discussed in other chapters of this issue.
Physiology Weihenstephan, Technical University Munich, Freising, Germany. Christiane.Albrecht@wzw.tum.de
Christiane
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Albrecht
Enrique
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Viturro
D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D001692:Biological Transport; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000503:physiopathology; D006801:Humans; D050356:Lipid Metabolism
C473801:ABCA12 protein, human; C473800:ABCA13 protein, human; C418186:ABCA2 protein, human; C441524:ABCA3 protein, human; C411895:ABCA7 protein, human; D018528:ATP-Binding Cassette Transporters