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.
Fold improperly
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The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane regulator.
Cystic fibrosis is caused by defective CFTR protein. CFTR is an ion channel that transports chloride ions across epithelial cell membranes.
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.
The gene on chromosome 7 produces a protein called cystic fibrosis trans-membrane 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.
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Cystic Fibrosis
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Cystic fibrosis happens due to mutations in a gene called CFTR and an abnormal behavior impairs homeostasis inside the cell. Cyst
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.
Fold improperly
phenylalanine
In the DNA: a mutation on chromosome 7
What is cystic fibrosis? Cystic fibrosis is a life threatening disease.
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane regulator.
Cystic fibrosis is caused by defective CFTR protein. CFTR is an ion channel that transports chloride ions across epithelial cell membranes.