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Inborn Errors of the Cellular Expression and Localization of ABCG2 and ABCB6. A Database for ABC Transporter Mutations

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ABC Transporters - 40 Years on

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Abstract

This chapter gives an overview on the cellular expression and function of ABCG2/BCRP/MXR and ABCB6. Inborn errors of ABCG2 are implicated in cancer multidrug resistance, hematological diseases and gout, while those of ABCB6 cause rare and poorly defined conditions, affecting eye development or pigmentation. We discuss the basic biochemical, physiological, and pathophysiological properties of these transporters, focusing on polymorphisms and mutations that lead to pathological conditions. Since in several cases the related diseases are caused by aberrant protein folding, trafficking or degradation, we describe potential correction strategies for prevention or treatment. In this chapter we also provide an improved database for the analysis of disease-causing mutations in ABC transporters, with the hope of promoting further basic research and clinical studies.

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Acknowledgement

GS was supported by a Momentum Grant of the Hungarian Academy of Sciences and the Austrian Science Fund SFB35 (F3525). TH was supported by a Bolyai Research Fellowship of the Hungarian Academy of Sciences and OTKA 111678. Funding from TET_13_DST-1-2013-0012 is also acknowledged.

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Authors and Affiliations

  1. Research Centre for Natural Sciences, Institute of Enzymology, Hungarian Academy of Sciences, Magyar Tudósok körútja 2, Budapest, 1117, Hungary

    Gergely Szakács & Balázs Sarkadi

  2. Department of Biophysics and Radiation Biology, MTA-SE Molecular Biophysics Research Group, Semmelweis University, Budapest, Hungary

    Tamás Hegedűs & Balázs Sarkadi

Authors
  1. Gergely Szakács
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  2. Tamás Hegedűs
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  3. Balázs Sarkadi
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Correspondence to Balázs Sarkadi .

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Editors and Affiliations

  1. School of Life Sciences, University of Technology, Sydney, Australia

    Anthony M. George

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Szakács, G., Hegedűs, T., Sarkadi, B. (2016). Inborn Errors of the Cellular Expression and Localization of ABCG2 and ABCB6. A Database for ABC Transporter Mutations. In: George, A. (eds) ABC Transporters - 40 Years on. Springer, Cham. https://doi.org/10.1007/978-3-319-23476-2_14

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