Scientific article
Review
English

Mutations in connexin genes and disease

Published inEuropean journal of clinical investigation, vol. 41, no. 1, p. 103-116
Publication date2011
Abstract

Connexins are a family of transmembrane proteins that are widely expressed in the human body. Connexins play an important role in cell-cell communication and homeostasis in various tissues by forming gap junction channels, which enable a direct passage of ions or metabolites from one cell to another. Twenty-one different connexins are expressed in humans, each having distinct expression patterns and regulation properties. Knowledge on this family of proteins can be gained by making an inventory of mutations and associated diseases in human.

Keywords
  • Cell Communication/genetics/physiology
  • Connexins/genetics/physiology
  • Disease/etiology/genetics
  • Gap Junctions/genetics/physiology
  • Humans
  • Mutation
Citation (ISO format)
PFENNIGER, Anna, WOHLWEND, Annelise Isabelle, KWAK, Brenda. Mutations in connexin genes and disease. In: European journal of clinical investigation, 2011, vol. 41, n° 1, p. 103–116. doi: 10.1111/j.1365-2362.2010.02378.x
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ISSN of the journal0014-2972
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Creation20/11/2012 21:15:00
First validation20/11/2012 21:15:00
Update time14/03/2023 17:46:29
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