Title: Mutations in band 3 and cation leaky red cells
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.
Publication Year: 2006
Publication Date: 2006-03-14
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 26
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