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The CFTR protein product is responsible for transporting chloride ions across epithelial cell membranes, which is crucial for maintaining the balance of salt and water in tissues. This function is essential for the proper functioning of organs such as the lungs, pancreas, and intestines. Mutations in the CFTR gene lead to cystic fibrosis, a condition characterized by thick mucus buildup and various complications in these organs. Overall, CFTR plays a vital role in fluid secretion and homeostasis in various bodily systems.
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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.
How many exons are in CFTR?
The CFTR (cystic fibrosis transmembrane conductance regulator) gene contains 27 exons. These exons encode the protein responsible for regulating chloride ions across epithelial cell membranes, and mutations in this gene are associated with 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.
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.
What does a CFTR gene stand for?
CFTR gene stands for Cystic Fibrosis Transmembrane Conductance Regulator gene. It is responsible for encoding a protein that regulates the flow of ions across cell membranes, particularly in the lungs and digestive system. Mutations in this gene can lead to cystic fibrosis, a genetic disorder affecting the lungs and digestive system.
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.
How many exons are in CFTR?
The CFTR (cystic fibrosis transmembrane conductance regulator) gene contains 27 exons. These exons encode the protein responsible for regulating chloride ions across epithelial cell membranes, and mutations in this gene are associated with 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.
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.
What does a CFTR gene stand for?
CFTR gene stands for Cystic Fibrosis Transmembrane Conductance Regulator gene. It is responsible for encoding a protein that regulates the flow of ions across cell membranes, particularly in the lungs and digestive system. Mutations in this gene can lead to cystic fibrosis, a genetic disorder affecting the lungs and digestive system.
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.
Is cystic fibrosis chromosomal abnormality?
Yes, it is caused by a mutation in the gene for the protein CFTR.
How does cystic fibrosis effect the cell membrane?
Cystic fibrosis is caused by defective CFTR protein. CFTR is an ion channel that transports chloride ions across epithelial cell membranes.
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.
Is cystic fibrosis caused by a gene mutation or chromosomal mutation?
Cystic fibrosis is primarily caused by mutations in the CFTR gene, which is located on chromosome 7. These mutations can result in a defective or non-functioning CFTR protein, leading to the characteristic symptoms of the disease.
In cystic fibrosis a change in a single gene causes the protein called CFTR to?
fold improperly
In cystic fibrosis a change in a single gene caused the protein called CFTR to?
fold improperly
