Where is cftr located

There are 20 different amino acids. All proteins are made up of chains of these amino acids connected together in different orders, like different words that are written using the same 26 letters of the alphabet.

The DNA instructions tell the cell which amino acid to use at each position in the chain to make a specific protein. The CFTR protein is made up of 1, amino acids. The CFTR protein is shaped like a tube that goes through the membrane surrounding the cell, like a straw goes through the plastic top on a cup. The CFTR protein is a particular type of protein called an ion channel.

An ion channel moves atoms or molecules that have an electrical charge from inside the cell to outside, or from outside the cell to inside.

In the lung, the CFTR ion channel moves chloride ions from inside the cell to outside the cell. To get out of the cell, the chloride ions move through the center of the tube formed by the CFTR protein. Once the chloride ions are outside the cell, they attract a layer of water. This water layer is important because it allows tiny hairs on the surface of the lung cells, called cilia, to sweep back and forth. This sweeping motion moves mucus up and out of the airways. When any of these problems occur, the chloride ions are trapped inside the cell, and water is no longer attracted to the space outside the cell.

When there is less water outside the cells, the mucus in the airways becomes dehydrated and thickens, causing it to flatten the cilia. Scientists have identified at least 1, genetic mutations that cause CF. Some mutations cause virtually no CFTR function and others create at least some function. These mutations are grouped into six classes. Fdel is a Class II mutation.

Scientists have identified differences in the health and response to treatment among the different classes of CF mutations. People with these mutations tend to be younger, are more likely to be prescribed pancreatic enzymes , to develop CF-related diabetes and liver disease, and have acid reflux. Class IV-VI mutations are more common for those under age 10 and those who are 50 and older. People with these CFTR mutations have milder lung disease and some pancreatic function which is why they tend to live much longer than those with more severe types of CF.

Genotype refers to the genetic code in a cell. Genotyping is the process in which a genetic mutation is identified through genetic testing. Phenotype refers to the way a genotype is expressed, such as hair color.

In the case of CF, phenotype explains which symptoms are more or less severe in certain genotypes. Theratyping refers to the process of identifying a genetic mutation based on how the body responds to available therapy. By providing your email address, you are agreeing to our privacy policy. We never sell or share your email address.

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