Cystic Fibrosis (CF) is a common lethal genetic disease caused by mutations of the gene coding for the cystic fibrosis transmembrane conductance factor, a cAMP regulated chloride channel. Approximately 70% of all CF cases share the deletion of a phenylalanine at position 508 (delta F508) which results in abnormal chloride transport. Since the CF mutation is lethal, most often by lung and liver disease, it raises the question of why this genetic disease remains as common as it is. One possible explanation is that Salmonella typhi has been shown to use CFTR to enter intestinal epithelial cells and that delta F508 heterozygote and homozygote mice showed 86% and 100% reductions in S. typhi intestinal submucosal uptake.
Protein Aliases: ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; ATP-binding cassette, subfamily c, member 7; cAMP-dependent chloride channel; CFTR; Channel conductance-controlling ATPase; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); cystic fibrosis transmembrane conductance regulator homolog; cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7; tcag7.78
Gene Aliases: ABC35; ABCC7; AW495489; CF; CFTR; CFTR/MRP; dJ760C5.1; MRP7; RGD1561193; TNR-CFTR
Molecular Function: ATP-binding cassette (ABC) transporter