- CFTR (gene)
function properly.
The CFTR gene is located on the long (q) arm of chromosome 7 at position 31.2, from
base pair 116,907,253 to base pair 117,095,955.Related conditions
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Congenital bilateral absence of vas deferens : Males with congenital bilateral absence of thevas deferens most often have a mildmutation (a change that allows partial function of the gene) in one copy of the CFTR gene and a cystic fibrosis-causing mutation in the other copy of CFTR. As a result of these mutations, the movement of water and salt into and out of cells is disrupted. This disturbance leads to the production of a large amount of thick mucus that blocks the developing vas deferens (a tube that carries sperm from the testes) and causes it to degenerate, resulting in infertility.*
Cystic fibrosis : More than 1,000 mutations in the CFTR gene have been found but the majority of these have not been associated with cystic fibrosis. Most of these mutations either substitute oneamino acid (a building block of proteins) for another amino acid in the CFTR protein or delete a small amount ofDNA in the CFTR gene. The most common mutation, calledΔF508 , is a deletion (Δ) of one amino acid at position 508 in the CFTR protein. This altered protein never reaches the cell membrane because it is degraded shortly after it is made. All disease-causing mutations in the CFTR gene prevent the channel from functioning properly, leading to a blockage of the movement of salt and water into and out of cells. As a result of this blockage, cells that line the passageways of the lungs, pancreas, and other organs produce abnormally thick, sticky mucus. This mucus obstructs the airways and glands, causing the characteristic signs and symptoms of cystic fibrosis. In addition, thin mucus can be removed by cilia. However, thick mucus cannot be removed by cilia, so it traps bacteria that give rise to chronic infections.References
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*External links
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* [http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFTR GeneCards]
* [http://www.genet.sickkids.on.ca/cftr/ Cystic Fibrosis Mutation Database]
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