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Cystic fibrosis is caused by defective CFTR protein. CFTR is an ion channel that transports chloride ions across epithelial cell membranes.
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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 is cystic fibrosis gene disorder?
The genes on each chromosome control specific functions of the human body. The gene on chromosome 7 produces a protein called cystic fibrosis transmembrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease. It means that both copies of the gene must be defective. An affected person will have abnormal cystic fibrosis transmembrane regulator gene on each chromosome 7. Therefore both biological parents must have an abnormal gene. One abnormal copy is inherited from each parent. A person with one normal gene and one abnormal gene is called a cystic fibrosis carrier. Cystic fibrosis carriers do not show any symptoms but they may pass the abnormal gene to their children. Therefore the parents can be either cystic fibrosis carriers or affected themselves.
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 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.
What is the effect of CFTR on tissue function?
CFTR (cystic fibrosis transmembrane conductance regulator) is a protein that regulates chloride and bicarbonate transport across cell membranes. Mutations in the CFTR gene can lead to dysfunction in various tissues, particularly affecting the lungs and digestive system in cystic fibrosis patients. This results in thick, sticky mucus production, impaired ciliary function, and increased susceptibility to infections.
What type of membrane dysfunction results in the condition known as cystic fibrosis?
Cell membrane
What is the term for Cystic fibrosis?
Hardening of the outer wall of the cell
Is Cystic Fibrosis Transmembrane Conductance Regulator an integral or peripheral plasma membrane protein?
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is an integral plasma membrane protein. It functions as a chloride channel, playing a crucial role in regulating ion transport across epithelial cell membranes. CFTR spans the lipid bilayer, which is characteristic of integral membrane proteins, as it is embedded within and interacts with the hydrophobic core of the membrane.
What is the most common lethal genetic disease in US African Americans?
Cystic fibrosis it is characterized by thick mucus in the lungs
How does cystic fibrosis affect homeostasis?
Cystic fibrosis happens due to mutations in a gene called CFTR and an abnormal behavior impairs homeostasis inside the cell. Cyst
Which gene causes cystic fibrosis?
Cystic Fibrosis is caused by the gene which codes for the protein CFTR--Cystic Fibrosis Transmembrane Conductance Regulator, which is found on chromosome 7. The protein transports chloride ions across epithelial cell membranes.
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 mechanism fails in Cystic Fibrosis patients?
The movement of chloride ions across the cell membranes.
What is cystic fibrosis gene disorder?
The genes on each chromosome control specific functions of the human body. The gene on chromosome 7 produces a protein called cystic fibrosis transmembrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease. It means that both copies of the gene must be defective. An affected person will have abnormal cystic fibrosis transmembrane regulator gene on each chromosome 7. Therefore both biological parents must have an abnormal gene. One abnormal copy is inherited from each parent. A person with one normal gene and one abnormal gene is called a cystic fibrosis carrier. Cystic fibrosis carriers do not show any symptoms but they may pass the abnormal gene to their children. Therefore the parents can be either cystic fibrosis carriers or affected themselves.
Is sickle cell anemia and cystic fibrosis caused by recessive alleles?
im not really sure, but i think it is.
What has gene therapy shown promise in controlling?
Gene therapy has shown promise in controlling genetic disorders such as cystic fibrosis, sickle cell anemia, and muscular dystrophy. It has also shown potential in treating certain types of cancer and inherited eye disorders.
What type of genetic disorder occurs when the body produces abnormally thick mucus?
Cystic fibrosis is the genetic disorder that occurs when the body produces abnormally thick mucus. This condition affects the lungs, digestive system, and other organs, leading to recurrent infections and difficulty in breathing and digesting food.
