The structural basis of cystic fibrosis

Biochem Soc Trans. 2018 Oct 19;46(5):1093-1098. doi: 10.1042/BST20180296. Epub 2018 Aug 28.

Abstract

CFTR (ABCC7) is a phospho-regulated chloride channel that is found in the apical membranes of epithelial cells, is gated by ATP and the activity of the protein is crucial in the homeostasis of the extracellular liquid layer in many organs [Annu. Rev. Biochem. (2008) 77, 701-726; Science (1989) 245, 1066-1073]. Mutations in CFTR cause the inherited disease cystic fibrosis (CF), the most common inherited condition in humans of European descent [Science (1989) 245, 1066-1073; Pflugers Arch. (2007) 453, 555-567]. The structural basis of CF will be discussed in this article.

Keywords: cystic fibrosis transmembrane conductance regulator; ion channel; protein structure; transmembrane proteins.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenosine Triphosphate / chemistry
  • Animals
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis Transmembrane Conductance Regulator / chemistry*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
  • Epithelial Cells / metabolism
  • Homeostasis
  • Humans
  • Ion Channel Gating
  • Mutation
  • Phosphorylation
  • Protein Domains
  • Structure-Activity Relationship
  • Zebrafish

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Adenosine Triphosphate