Supporting information

The cystic fibrosis transmembrane conductance regulator (CFTR) is a 12-transmembrane ATP-binding cassette (ABC) transporter that functions as a cAMP-dependent chloride channel. It is localized to the apical membrane of epithelial cells within the lungs, liver, pancreas, digestive tract, reproductive tract and skin, where it is involved in fluid transport.

CFTR is composed of five domains: two membrane-spanning domains (MSD1, MSD2) that function as a chloride channel; two nucleotide-binding domains (NBD1, NBD2) that possess ATPase activity; and a regulatory domain that contains a protein kinase A phosphorylation site, which controls channel opening. The CFTR may also regulate other channels including the epithelial sodium channel (ENaC) and the calcium-activated chloride channel (CaCC).

Mutations in the CFTR gene result in a number of diseases including cystic fibrosis (CF). The most common mutation detected in CF patients is a deletion of a phenylalanine residue within the NBD1 domain, and is known as the ΔF508 mutation. This results in a misfolded protein that is not trafficked to the apical membrane, but is instead retained in the endoplasmic reticulum where it undergoes proteasomal degradation. Absence of the CFTR at the apical membrane leads to an imbalance in intracellular chloride ion concentration, as well as the removal of the inhibitory actions of CFTR on ENaC function. This results in an increase in sodium ion conductance, inducing impaired transcellular water transport and abnormal lung secretions that promote bacterial infection.

View all products for CFTR »
Gene Species Gene Symbol Gene Accession No. Protein Accession No.
CFTR Human CFTR NM_000492 P13569
Mouse Cftr NM_021050 P26361
Rat Cftr NM_031506 NP_113694

Quick Order

Find multiple products by catalog number

divider line

New Product Guide

Spring/Summer 2017

New Product Guide (Spring/Summer 2017)

Our New Product guide highlights over 130 new products added in the first half of 2017. View PDF today.

divider line

LinkedIn Updates

Follow Tocris on LinkedIn

Follow us on LinkedIn!

Visit our LinkedIn page for the latest Tocris news, events and updates.