cystic fibrosis transmembrane conductance regulator

…the defective gene, known as CFTR, from both parents. More than 1,000 mutation sites have been identified in CFTR, and most have been related to different manifestations of the disease. However, individuals with the same genotype can show remarkably different phenotypes. Some will show early onset, others later onset; in…

The gene, called cystic fibrosis transmembrane conductance regulator, or CFTR, lies in the middle of chromosome 7 and encodes a protein of the same name, designated CFTR.