Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.

@article{Guizouarn2007PointMI,
  title={Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.},
  author={H{\'e}l{\`e}ne Guizouarn and Sonia Martial and Nicole Gabillat and Franck Borg{\`e}se},
  journal={Blood},
  year={2007},
  volume={110 6},
  pages={
          2158-65
        }
}
The anion exchanger 1 (AE1) is encoded by the SLC4A1 gene and catalyzes the electroneutral anion exchange across cell plasma membrane. It is the most abundant transmembrane protein expressed in red cell where it is involved in CO(2) transport. Recently, 4 new point mutations of SLC4A1 gene have been described leading to missense mutations in the protein sequence (L687P, D705Y, S731P, or H734R). These point mutations were associated with hemolytic anemia, and it was shown that they confer a… CONTINUE READING

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