Since the discovery of the CFTR gene in 1989, more than 2,500 mutations have been identified. Cystic fibrosis is caused by mutations in the CFTR gene, which encodes a chloride channel located on the surface of certain epithelial cells.

There are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation. CFTR modulators address various problems caused by different types of CFTR mutations.

Cystic fibrosis, the most common autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a cAMP-activated chloride and bicarbonate channel that regulates ion and water transport in secretory epithelia.

Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.

2023年4月5日 · Mutations in the CFTR gene are classified based on their effect on the CFTR protein. A common modern classification system groups mutations into five classes: protein production mutations (class 1), protein processing mutations (class 2), gating mutations (class 3), conduction mutations (class 4), and insufficient protein mutations (class 5).

2024年11月15日 · More than 2,000 mutations of the CFTR gene can cause cystic fibrosis. Different mutations affect how much CFTR protein the cells make and how well the protein works. With the most common gene mutation, part of the CFTR gene is missing. The mutation makes a CFTR protein that can’t stay in the correct shape.

To date, over 700 mutations of the CFTR gene have been identified. A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is delta F508, accounting for approximately 70% of all mutations.

2014年7月1日 · Mutations disrupting the function of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, also referred to as ABCC7, cause cystic fibrosis (CF), a severe autosomal recessive disease. CF affects 1 in …

More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Most of these mutations change single protein building blocks (amino acids) in the CFTR protein or delete a small amount of DNA from the CFTR gene. The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the ...

Cystic fibrosis is caused by mutations, or changes, in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides the code that tells the body how to make the CFTR protein. The protein controls the salt and water balance in the lungs and other tissues.