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Reviewed January 2008
What is the official name of the CFTR gene?
The official name of this gene is “cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7).”
CFTR is the gene's official symbol. The CFTR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CFTR gene?
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues.
The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas.
Does the CFTR gene share characteristics with other genes?
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CFTR gene related to health conditions?
Genetics Home Reference provides information about hereditary pancreatitis, which is also associated with changes in the CFTR gene.
Where is the CFTR gene located?
Cytogenetic Location: 7q31.2
Molecular Location on chromosome 7: base pairs 117,120,016 to 117,308,718
The CFTR gene is located on the long (q) arm of chromosome 7 at position 31.2.
More precisely, the CFTR gene is located from base pair 117,120,016 to base pair 117,308,718 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CFTR?
You and your healthcare professional may find the following resources about CFTR helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CFTR gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CFTR?
acids ; amino acid ; aspergillosis ; ATP ; bilateral ; bronchi ; bronchiectasis ; cell ; cell membrane ; channel ; charged particles ; chloride ; chronic ; congenital ; deletion ; digestive ; digestive system ; DNA ; fever ; fibrosis ; gene ; idiopathic ; infection ; infertile ; inflammation ; ions ; mucus ; mutation ; pancreas ; pancreatitis ; protein ; respiratory ; semen ; sinus ; sinusitis ; sodium ; sperm ; testes ; transmembrane ; vas deferens
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.