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Cation transport activity of anion exchanger 1 (AE1) mutations found in inherited distal renal tubular acidosis (dRTA): structure-function implications for AE1
American Journal of Physiology: Renal Physiology, 06/09/08
Walsh SB et al. - We found a large cation leak in the G701D mutant. This mutant normally requires co-expression with glycophorin A (GPA) for surface membrane expression in red cells and oocytes. However, we found that co-expressing wildtype kidney AE1 with G701D in oocytes still caused a cation leak, consistent with heterodimerized G701D reaching the cell membrane and retaining its cation conductance property. These findings have potential structural and functional implications for AE1, and indicate that while anion exchange and cation conductance properties are distinct, they may co-exist.
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