CF calcium channels

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 allele) 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.

 All text material ©2014 by Steven M. Carr