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Genetics Home Reference: your guide to understanding genetic conditions
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CFTR

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.

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?

The CFTR gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPases).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the CFTR gene related to health conditions?

congenital bilateral absence of the vas deferens - caused by mutations in the CFTR gene

About 80 CFTR mutations have been identified in males with congenital bilateral absence of the vas deferens. Most affected males have a mild mutation in at least one copy of the gene in each cell. These mutations allow the CFTR protein to retain some of its function. Some affected males have a mild mutation in one copy of the CFTR gene in each cell and a more severe, cystic fibrosis-causing mutation in the other copy of the gene.

Mutations in the CFTR gene disrupt the function of the chloride channel, preventing the usual flow of chloride ions and water into and out of cells. As a result, cells in the male genital tract produce mucus that is abnormally thick and sticky. This mucus clogs the tubes that carry sperm from the testes (the vas deferens) as they are forming, causing them to deteriorate before birth. Without the vas deferens, sperm cannot be transported from the testes to become part of semen. Men with congenital bilateral absence of the vas deferens are unable to father children (infertile) unless they use assisted reproductive technologies.

cystic fibrosis - caused by mutations in the CFTR gene

More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Most of these mutations change single protein building blocks (amino acids) in the CFTR protein or delete a small amount of DNA from the CFTR gene. The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR protein. The resulting abnormal channel breaks down shortly after it is made, so it never reaches the cell membrane to transport chloride ions.

Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. All of these changes prevent the channel from functioning properly, which impairs the transport of chloride ions and the movement of water into and out of cells. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. The abnormal mucus obstructs the airways and glands, leading to the characteristic signs and symptoms of cystic fibrosis.

other disorders - associated with the CFTR gene

A few mutations in the CFTR gene have been identified in people with isolated problems affecting the digestive or respiratory system. For example, CFTR mutations have been found in some cases of idiopathic pancreatitis, an inflammation of the pancreas that causes abdominal pain, nausea, vomiting, and fever. Although CFTR mutations may be a risk factor, the cause of idiopathic pancreatitis is unknown.

Changes in the CFTR gene also have been associated with rhinosinusitis, which is a chronic inflammation of the tissues that line the sinuses. This condition causes sinus pain and pressure, headache, fever, and nasal congestion or drainage. Other respiratory problems, including several conditions that partially block the airways and interfere with breathing, are also associated with CFTR mutations. These conditions include bronchiectasis, which damages the passages leading from the windpipe to the lungs (the bronchi), and allergic bronchopulmonary aspergillosis, which results from hypersensitivity to a certain type of fungal infection. Additional genetic and environmental factors likely play a part in determining the risk of these complex conditions.

Where is the CFTR gene located?

Cytogenetic Location: 7q31.2

Molecular Location on chromosome 7: base pairs 117,470,771 to 117,668,664

The CFTR gene is located on the long (q) arm of chromosome 7 at position 31.2.

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 117,470,771 to base pair 117,668,664 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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?

  • ABC35
  • ABCC7
  • cAMP-dependent chloride channel
  • CF
  • CFTR_HUMAN
  • cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
  • MRP7

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 ; hereditary ; 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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cohn JA. Reduced CFTR function and the pathobiology of idiopathic pancreatitis. J Clin Gastroenterol. 2005 Apr;39(4 Suppl 2):S70-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15758663?dopt=Abstract)
  • Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl. 2004 Oct;27(5):251-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15379964?dopt=Abstract)
  • Gadsby DC, Vergani P, Csanády L. The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature. 2006 Mar 23;440(7083):477-83. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16554808?dopt=Abstract)
  • Gene Review: CFTR-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1250)
  • Kulczycki LL, Kostuch M, Bellanti JA. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. Am J Med Genet A. 2003 Jan 30;116A(3):262-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12503104?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1080)
  • Nick JA, Rodman DM. Manifestations of cystic fibrosis diagnosed in adulthood. Curr Opin Pulm Med. 2005 Nov;11(6):513-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16217177?dopt=Abstract)
  • Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res. 2001;2(6):328-32. Epub 2001 Aug 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11737931?dopt=Abstract)
  • Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod. 2007 May;22(5):1285-91. Epub 2007 Feb 28. (http://www.ncbi.nlm.nih.gov/pubmed/17329263?dopt=Abstract)
  • Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005 May 12;352(19):1992-2001. (http://www.ncbi.nlm.nih.gov/pubmed/15888700?dopt=Abstract)
  • Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet. 2007 Apr 20;8:22. (http://www.ncbi.nlm.nih.gov/pubmed/17448246?dopt=Abstract)
  • Vankeerberghen A, Cuppens H, Cassiman JJ. The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros. 2002 Mar;1(1):13-29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15463806?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: November 17, 2014