Human Genetics

, Volume 102, Issue 5, pp 576–581 | Cite as

Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel

  • M. Ludwig
  • Ursula Bolkenius
  • Lucia Wickert
  • Peter Marynen
  • Frank Bidlingmaier
Original Investigation

Abstract

The human amiloride-sensitive epithelial sodium channel (ENaC) is a member of the degenerin/ENaC family of ion channels and regulates fluid and electrolyte absorption across a number of epithelia, including kidney, colon and lung. Native ENaC has been shown to be a multimer made up of at least three homologous subunits (α, β, γ) and mutations affecting the channel complex have been identified in various human diseases. “Gain of function” mutations in one of the three ENaC subunits have been found to cause pseudoaldosteronism (Liddle’s syndrome) and ENaC “reduction of function” mutations are found in patients affected with the recessive form of pseudohypoaldosteronism (PHA) type 1. In this report, we describe the genomic organisation of the humanαENaC gene. Human αENaC consists of 13 exons spanning 17 kb on chromosome 12p13 and contains at least eight Alu sequences. In addition to the intron/exon boundaries, we have deciphered almost all the intron sequences and 475 bp of the CCAAT-less and TATA-less 5′ flanking region.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • M. Ludwig
    • 1
  • Ursula Bolkenius
    • 1
  • Lucia Wickert
    • 1
  • Peter Marynen
    • 2
  • Frank Bidlingmaier
    • 1
  1. 1.Dept. of Clinical Biochemistry, University of Bonn, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany Tel.: +49 228 287 5969, Fax: +49 228 287 5028DE
  2. 2.Human Genome Analysis Laboratory, Center for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, BelgiumBE

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