Mutations in band 3 and cation leaky red cells

被引：20

作者：

Bruce, L ^{[1
]}

机构：

[1] Natl Blood Serv, Bristol Inst Transfus Sci, Bristol BS10 5ND, Avon, England

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2006年 / 36卷 / 03期

基金：

英国惠康基金;

关键词：

erythrocyte; stomatocytosis; spherocytosis; ovalocytosis; leak;

D O I：

10.1016/j.bcmd.2006.01.008

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

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. (c) 2006 Elsevier Inc. All rights reserved.

引用

页码：331 / 336

页数：6

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