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Is Cystic Fibrosis Transmembrane Conductance Regulator an integral or peripheral plasma membrane protein?
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Is cystic fibrosis a mutation?
yes, it is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, which results in a loss of the amino acid phenylalanine
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 CFTR-ΔF508 refer to?
It is a Cystic fibrosis transmembrane regulator. Its processing and function is species-dependent.
What cells are affected by cystic fibrosis?
The protein affected by cystic fibrosis is called the cystic fibrosis transmembrane conductance regulator or CFTR. CFTR acts as a channel that transports negatively charged chloride ions into and out of cells. This helps control the flow of water in tissues. CFTR also regulates the function of other channels that transport positive sodium ions into and out of cells.
What role does cftr play in the body?
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane regulator.
What kind of pattern of inheritance of cystic fibrosis?
Inheritance - Autosomal recessive, requires mutations on both alleles - A single gene on chromosome 7, which encodes for the cystic fibrosis transmembrane conductance regulator - There are over 1000 different mutations for this gene - The most common is Delta F508, which makes up 67% of all mutations in the Caucasian population - Caucasians most effected
What do scientists currently believe is the cause of Cystic Fibrosis How are the faulty gene inherited and what direct effect does that have on the affected cells?
The faulty gene causes the misfolding of a protein called the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). CFTR is responsible for the movement of chloride and sodium ions into and out of cells. The lack of salt and water on the surface of the cells causes the mucus to become extremely thick and sticky which builds up in and clogs organs.
What is the type of inheritance of cystic fibrosis?
Cystic fibrosis is an autosomal recessive disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Heterozygous carriers (those who have inherited only one copy of the altered gene) are asymptomatic (do not experience symptoms). Two of these altered genes must be present for CF to appear. This means that if both parents are CF carriers, their offspring will express CF symptoms only if the child inherits one defective copy of the CFTR gene from each parent.
What is the inheritance pattern or cystic fibrosis?
Cystic fibrosis is an autosomal recessive disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Heterozygous carriers (those who have inherited only one copy of the altered gene) are asymptomatic (do not experience symptoms). Two of these altered genes must be present for CF to appear. This means that if both parents are CF carriers, their offspring will express CF symptoms only if the child inherits one defective copy of the CFTR gene from each parent.
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.
What is a person with cystic fibrosis missing?
the gene that codes for an important cell membrane protein called cystic fibrosis transmembrane conductance regulator CFTR which acts as a chloride channel to transport chloride ions in and out of the epithelial cells in GIT and respiratory tract and also cells of sweat glands .
How can you have new blood?
Your 'old' blood returns down your urinary tract and through your cystic fibrosis transmembrane conductance regulator tract and it eats away at your gasto-duodenal mucosa. Then it works it way up to your brain and in your sleep it rolls down your ears and into your mouth and it seeps into your saliva and the digestive enzymes eat away the old blood cellular walls and allows new cells inside the old decayed cells to be released and thats how it happens.
