Mutations in band 3 and cation leaky red cells

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• 作者：Lesley Bruce
• 关键词：Erythrocyte ; Stomatocytosis ; Spherocytosis ; Ovalocytosis ; Leak
• 刊名：Blood Cells, Molecules, and Diseases
• 出版年：2006
• 出版时间：6 May 2006
• 年：2006
• 卷：36
• 期：3
• 页码：331-336
• 全文大小：305 K

文摘

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.