Phenylalanine-508, ΔF508 is the most common mutation causing cystic fibrosis. This occurs on the Non-binding Domain (NBD1) region of the CFTR gene – the gene that codes for the CFTR protein.

There is a mutation on the CFTR gene that codes for the CFTR protein.

The ΔF508 allele is the most common CF allele, and has a frequency of 0.68 in Caucasians.

Cystic Fibrosis is Autosomal Recessive

CFTR = Cystic Fibrosis Transmembrane Conductance Regulator.

The Gene is 7q31. This gene is 250kB and encodes for a protein that is 170kDa.

The CFTR gene is in Chromosome 07

- A disorder of pancreatic secretion.
- Results from a defect in Cl- channels that is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Is associated with a deficiency of pancreatic enzymes resulting in malabsorption of lipids and steatorrhea b/c the pancreas cannot synthesize adequate amounts of the enzymes needed for lipid digestion.