Mutations in band 3 and cation leaky red cells

Blood Cells, Molecules & Diseases
L J Bruce

Abstract

We have recently shown that amino acid substitutions in the membrane domain of band 3 (anion exchanger 1, SLC4A1) are associated with hereditary stomatocytosis (HSt), a red cell condition in which the cells leak sodium and potassium ions. These substitutions appear to convert band 3 from an anion exchanger into a cation channel. In this review, I will first give some background on the structure and function of normal band 3 and describe our findings in red cells from HSt patients. Then I will compare the properties of the HSt band 3 to those of Southeast Asian Ovalocytosis (SAO) band 3 and discuss the implications for the structure of band 3, the quality control of protein expression in red cells and the cation permeability of normal human red cells.

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Citations

Jul 27, 2010·Gene·Carolina LópezManuel A Patarroyo
Feb 29, 2008·Blood Cells, Molecules & Diseases·Rosalind C Williamson, Ashley M Toye
Dec 12, 2007·Vox Sanguinis·G Daniels
Sep 12, 2015·Biological Trace Element Research·Qiuyue ZhangYanfei Li
Mar 20, 2012·Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases·Michael E SteiperJulia M Zichello
Sep 7, 2018·American Journal of Hematology·Immacolata AndolfoAchille Iolascon
Aug 1, 2019·British Journal of Haematology·Achille IolasconRoberta Russo
Nov 20, 2016·Proceedings of the National Academy of Sciences of the United States of America·Estela Puchulu-CampanellaPhilip S Low
Oct 4, 2017·American Journal of Hematology·Immacolata AndolfoAchille Iolascon

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