Diseases of mutations in the SLC4A1/AE1 (band 3) Cl/HCO3 exchanger

  • Seth L. Alper


The AE1/SLC4A1/EPB3 gene is the founding member of the SLC4 bicarbonate transporter superfamily. The SLC4 gene family includes nine known mammalian genes, each of which encodes multiple transcripts encoding variant polypeptides. The SLC4A1 gene is one of three of these genes (SLC4A1-3) which have been shown to encode Na+-independent, electroneutral Cl/HCO 3 exchanger polypeptides. (Although less thoroughly investigated, SLC4A9 in at least some species has also been reported to express this activity.) The SLC4A1 gene is unique among the human SLC4 Na+-independent Cl/HCO3 exchanger genes in its association with inherited human disease. The SLC4A l/AE1 polypeptide has recently been reviewed (Alper 2002; Knauf and Pal 2003), as has its roles in human disease (Shayakul and Alper 2000; Alper 2002; Kaset 2002; Sterning and Casey 2002; Tannel 2002; Wrong et al. 2002; Jarolim 2003).


MDCK Cell Xenopus Oocyte Blood Group Antigen Hereditary Spherocytosis Intercalate Cell 
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Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Seth L. Alper
    • 1
  1. 1.Harvard Medical School, Molecular Medicine and Renal UnitsRW 763 Beth Israel Deaconess Medical CenterBostonUSA

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