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

  • Chapter
Membrane Transporter Diseases

Abstract

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).

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  1. Harvard Medical School, Molecular Medicine and Renal Units, RW 763 Beth Israel Deaconess Medical Center, East Campus, 330 Brookline Avenue, Boston, MA, 02215, USA

    Seth L. Alper

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  1. Australian National University, Canberra, Australia

    Stefan Bröer

  2. University of Zurich, Zurich, Switzerland

    Carsten A. Wagner

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Alper, S.L. (2003). Diseases of mutations in the SLC4A1/AE1 (band 3) Cl−/HCO −3 exchanger. In: Bröer, S., Wagner, C.A. (eds) Membrane Transporter Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9023-5_3

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