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Where in the treated cells is CFTR actually produced?
In treated cells, CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) is produced primarily in the endoplasmic reticulum (ER) and then transported to the plasma membrane. The CFTR protein undergoes post-translational modifications in the ER and Golgi apparatus before being folded correctly and sent to the cell surface, where it functions as a chloride channel. Proper trafficking and expression at the plasma membrane are crucial for its function in regulating ion transport.
When was CFTR - AM - created?
CFTR - AM - was created in 1962.
What change causes the protein CFTR fold improperly?
A mutation in the CFTR gene causes the protein CFTR to fold improperly. This mutation results in a defective CFTR protein that cannot function properly, leading to the development of cystic fibrosis.
What role does cftr play in the body?
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane regulator.
Does cystic fibrosis have extra chromosomes?
No, cystic fibrosis is caused by mutations in the CFTR gene, not by the presence of extra chromosomes. Individuals with cystic fibrosis inherit two faulty copies of the CFTR gene, one from each parent, which leads to the production of a defective CFTR protein that affects the movement of salt and water in and out of cells.
Where is the national headquarters of CFTR?
The national headquarters of the CFTR is located in the city of Boston. Boston is a city that can be found in the state of Massachusetts, which is part of the United States.
How many introns are in CFTR?
The CFTR gene has 27 exons and 26 introns. Introns are non-coding sequences that are spliced out during mRNA processing, while exons are coding sequences that are retained in the final mRNA transcript.
What happens to The protein called CFTR in cystic fibrosis?
Its name is CFTR and is a membrane channel for chlorine ions. Genetic defects in CFTR brings to an increased concentration of chlorine ions that lead to a greater viscosity of mucus in several mucosae in lungs and pancreas.
If someone was heterozygous for cystic fibrosis what proteins would they make?
If someone is heterozygous for cystic fibrosis, they have one normal CFTR gene and one mutated CFTR gene. This means they would produce both functional and dysfunctional CFTR proteins. The presence of the normal CFTR protein may be sufficient to mitigate the severity of symptoms associated with cystic fibrosis, as they can still have some normal chloride ion transport. However, the overall function and effectiveness of the CFTR protein may be reduced compared to someone with two normal alleles.
What is the causes of cystic fibrosis?
Cystic fibrosis is caused by a mutation on the recessive allele of the CFTR gene. It is caused by a deletion of three adenine bases, so the CFTR protein produced has 1479 amino acids instead of 1480, although only one amino acid is missing this has an effect on the tertiary structure of the protein produced. The CFTR protein normally allows Chloride ions out of the epithelial cells of the airways, producing a more negative water potential outside of the cell and so water would usually move out of the cell and flush away the mucus. Since this protein is non-functional, water remains in the cell. Therefore this produces thick, sticky and viscous mucus, that can trap pathogens and cause disease for example.
What does CFTR-ΔF508 refer to?
CFTR-ΔF508 refers to a specific mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene where phenylalanine (F) at position 508 is deleted (Δ). This mutation leads to the production of a faulty CFTR protein, resulting in impaired chloride ion transport across cell membranes and causing the symptoms of cystic fibrosis.
Which amino acid is missing in the CFTR protein in people with cystic fibrosis?
The amino acid missing in the CFTR protein in people with cystic fibrosis is phenylalanine at position 508, resulting from a deletion of a single codon (ΔF508). This deletion leads to improper folding and trafficking of the CFTR protein, causing it to be degraded and non-functional.
