Cystic Fibrosis & CF Protein

Molecular & genetic basis of Cystic Fibrosis

The CF Protein creates a Cl^--permeable channel in the outer cell membrane. Persons with Cystic Fibrosis (OMIM219700) are typically homozygous for an allele with a 3bp deletion (

508) that removes a phenylalanine residue from a position near a nucleotide-binding domain. CF proteins with this defect are destroyed by the cell, and in the absence of Cl^--channels, the Cl^- / Na⁺ balance of the cell is disrupted. This leads to an accumulation of mucous in the lungs, a condition that is ultimately fatal.