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Cystic fibrosis transmembrane conductance regulator (CFTR) is most abundantly expressed in epithelial tissues, particularly in the lungs, pancreas, intestines, and sweat glands. In the lungs, CFTR plays a critical role in regulating chloride and water transport, which is essential for maintaining proper mucus viscosity and hydration. It is also important in the pancreas for bicarbonate secretion, aiding in digestive processes. Additionally, CFTR is found in other tissues, but its highest expression and functional significance are in those key epithelial sites.
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How would 2000 A.D. be expressed in roman numerals?
2000 A.D. would be expressed as MM in Roman numerals.
How do you write 78 million?
Expressed in figures, this would be equal to 7,800,000. Expressed in words, this would be seven million eight hundred thousand.
What is three percent of ten thousand dollars?
A percentage is expressed as a decimal. 100% would be expressed as 1.0 3% (3/100) would be expressed as 0.03 3% of 10,000 = 0.03 x 10,000 = 300
How would 1.1billion be expressed numerically?
1,100,000,000
What is the symbol for directly proportional?
Proportionality is a rational or ratio property. Ratios are expressed with a colon. [:] Direct proportionality would be expressed as 1:1
When was CFTR - AM - created?
CFTR - AM - was created in 1962.
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 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.
What is the genotype of woman with cystic fibrosis?
A woman with cystic fibrosis has a genotype that includes two copies of the mutated CFTR gene, which is located on chromosome 7. This means she is homozygous for the CFTR mutation, typically represented as "ff" where "f" indicates the presence of the cystic fibrosis allele. In cases where she has one normal CFTR allele and one mutated allele, she would be considered a carrier but would not exhibit symptoms of the disease. However, those with cystic fibrosis must have two copies of the mutated gene.
How would the DNA fingerprint from a person with cf differ to a person without cf?
Cystic fibrosis (CF) is primarily caused by mutations in the CFTR gene, which encodes a protein that regulates salt and water transport in cells. A DNA fingerprint from a person with CF would likely show specific mutations in the CFTR gene, such as the common F508del deletion, whereas a person without CF would have a normal CFTR gene sequence. While the overall DNA fingerprint may appear similar, the presence of these specific mutations distinguishes individuals with CF from those without the condition.
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.
