Inborn errors of the cellular expression and localization of ABCG2 and ABCB6. A database for ABC transporter mutations

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.