The cystic fibrosis gene and its product CFTR

Ann Harris*, Barry E. Argent

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

Cystic fibrosis is the commonest, fatal, inherited disease of caucasian populations occurring with a frequency of 1 in 2000 live births. The CF gene spans about 230 kb of genomic DNA and encodes a protein of 1480 amino acids named the cystic fibrosis transmembrane conductance regulator (CFTR). The primary sequence predicts that CFTR is an ABC type protein with twelve transmembrane spans, two nucleotide binding domains and a cytoplasmic regulatory domain, CFTR functions as a cyclic AMP-regulated, low conductance, chloride channel in epithelial cells, but other roles are possible. Failure of the CFTR channel in CF reduces epithelial salt and water secretion, leading to a dehydration of epithelial surfaces which initiates the pathology of the disease.

Original languageEnglish (US)
Pages (from-to)37-44
Number of pages8
JournalSeminars in Cell and Developmental Biology
Volume4
Issue number1
StatePublished - 1993

Keywords

  • CF gene
  • CFTR
  • Chloride channel
  • Cystic fibrosis

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Fingerprint Dive into the research topics of 'The cystic fibrosis gene and its product CFTR'. Together they form a unique fingerprint.

Cite this