The ABC transporters of human physiology and disease : genetics and biochemistry of ATP binding cassette transporters / edited by Kenneth J. Linton, I. Barry Holland.

Print version record.

Includes bibliographical references.

ATP Binding Cassette (ABC) transporters are a family of integral membrane proteins present in all cells of all species of archaea, eubacteria and eukaryota. The vast majority of these proteins control the transport across cellular membranes of molecules ranging from small ions to drugs, lipids and proteins. The human genome encodes 48 ABC transporter genes and mutations in most have been linked to disease. This book - that brings together state-of-the-art knowledge on ABC proteins in one volume - will provide students, professors and medical professionals with a background to the human ABC transporters that are known to be relevant to disease. Each of the 14 chapters is written by a leading researcher in the field. The genetics, structure and function of the proteins, and the future direction of research including the implications for human health are discussed in depth.

Ch. 1. General introduction, structure and likely mechanism of action of ABC transport proteins / Kenneth J. Linton, Joseph K. Zolnerciks and Lutz Schmitt -- ch. 2. ABCA1-mediated HDL formation: mechanism and regulation / Kohjiro Nagao [and others] -- ch. 3. Bile formation and the enterohepatic circulation / Peter H. Dixon and Catherine Williamson -- ch. 4. ABCB1 and ABCG2: deciphering the role of human efflux proteins in cellular and tissue permeability / Marcos M. Pires [and others] -- ch. 5. ABCA4 and its role in the visual cycle and inherited retinal degenerative diseases / Robert S. Molday and Laurie L. Molday -- ch. 6. The role of the antigen translocation machinery TAP in adaptive immunity / Daphne Nikles and Robert Tampe -- ch. 7. The ABCs of mitochondrial metabolic disorders / Yu Fukuda [and others] -- ch. 8. The role of ABCC family members in the disposition of endogenous compounds and drugs / Jorg Konig, Martin F. Fromm and Hartmut Glaeser -- ch. 9. ABC transporter mutations in heritable skin diseases: the ABCC6 and ABCA12 genes / Qiaoli Li, Qiujie Jiang and Jouni Uitto -- ch. 10. CFTR: understanding the cause and influencing the outcome of a major genetic disease / Tamas Hegedus, Martina Gentzsch and John R. Riordan -- ch. 11. ABCC8: physiology and pathology / David Ortiz [and others] -- ch. 12. The ABCD subfamily: peroxisomal transporters in health and disease / Aurora Pujol and Patrick Aubourg -- ch. 13. ABCG5/8 and its role in sterol homeostasis / Ronald P.J. Oude Elferink and Coen C. Paulusma -- ch. 14. Hot topics, recent advances and novel approaches for clinical intervention / Irwin M. Arias [and others].

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