What is the CFTR gene responsible for?

What is the CFTR gene responsible for?

The CFTR protein The cystic fibrosis transmembrane conductance regulator (CFTR) protein is responsible for regulating the proper flow of chloride and sodium (a component of salt) in and out of the cell membranes in the lungs and other organs. is made up of 1,480 amino acids.

What gene produces CFTR?

The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7. Mutations in this gene lead to CF.

What is the most common cystic fibrosis gene?

The most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein.

What kind of protein is CFTR?

The cystic fibrosis transmembrane conductance regulator (CFTR) is responsible for the disease cystic fibrosis (CF). It is a membrane protein belonging to the ABC transporter family functioning as a chloride/anion channel in epithelial cells around the body.

How many CFTR mutations are known?

All people have two copies of the CFTR gene, and there must be mutations in both copies to cause CF. More than 1,700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people.

Where is the CFTR gene?

The CFTR gene belongs to a family of genes that regulate the energy transfer that allows a cell to open and close its ion channels. It is located on human chromosome 7 and consists of twenty-seven sequences of DNA that encode 1,480 amino acids.

What causes the F508del mutation?

The deletion of a phenylalanine at residue 508 (F508del) is the most common cause of CFTR misfolding leading to the disease. The F508del misfolding originates in the first nucleotide-binding domain (NBD1), which induces a global conformational change in CFTR through NBD1’s interactions with other domains.

Does everyone have CFTR gene?

Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

What chromosome is CFTR on?

Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated …

Is the CFTR gene dominant or recessive?

Disease at a Glance Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by genetic changes in the CFTR gene and inheritance is autosomal recessive.

How common is F508del in cystic fibrosis?

One single mutation, F508del-CFTR, accounts for about 70% of CFTR loss-of-function mutations and is present in approximately 85% of CF patients worldwide (1). The mutant protein transcribed from the F508del-CFTR gene is misfolded and is prematurely degraded before it reaches the PM.

What does the Delta F508 mutation do to the lungs?

The most common mutation – called delta F508 – causes people to lose a small bit of genetic sequence in each of the genes that makes CFTR. This leads to one crucial building block being left out. As a result, the protein doesn’t fold properly and is destroyed by the body, leaving its cells short of CFTR.

Can a child have cystic fibrosis if only one parent is a carrier?

Both parents must be carriers before a child can have the disease. If one parent is found to be a carrier, the other would need to be tested. 2. If both parents are found to be carriers, the fetus has a 1 in 4 chance (25% risk) of having CF.

What does it mean if I’m a carrier of cystic fibrosis?

What is a cystic fibrosis carrier? Cystic fibrosis is an inherited disease that affects the glands that make mucus and sweat. Children may be born with cystic fibrosis if each parent carries one faulty gene for the disease. Someone with one normal CF gene and one faulty CF gene is known as a cystic fibrosis carrier.