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Genetics Home Reference: your guide to understanding genetic conditions
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FLCN

Reviewed March 2006

What is the official name of the FLCN gene?

The official name of this gene is “folliculin.”

FLCN is the gene's official symbol. The FLCN gene is also known by other names, listed below.

What is the normal function of the FLCN gene?

The FLCN gene provides instructions for making a protein called folliculin. Researchers have not determined the protein's function, but they believe it may act as a tumor suppressor. Tumor suppressors help control the growth and division of cells.

The folliculin protein is present in many of the body's tissues, including the brain, heart, placenta, testis, skin, lung, and kidney. Researchers have proposed several possible roles for the protein within cells. Folliculin may be important for cells' uptake of foreign particles (endocytosis or phagocytosis). The protein may also play a role in the structural framework that helps to define the shape, size, and movement of a cell (the cytoskeleton) and in interactions between cells.

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

Birt-Hogg-Dubé syndrome - caused by mutations in the FLCN gene

Several mutations in the FLCN gene have been identified in people with Birt-Hogg-Dubé syndrome. Most of these mutations insert or delete one or more protein building blocks (amino acids) in the folliculin protein. These mutations lead to the production of an abnormally small, nonfunctional version of this protein. Without folliculin, researchers believe that cells can grow and divide uncontrollably to form cancerous or noncancerous tumors. They have not determined how a loss of folliculin increases the risk of lung abnormalities that are often associated with Birt-Hogg-Dubé syndrome.

other disorders - caused by mutations in the FLCN gene

At least three mutations in the FLCN gene have been identified in families with a lung condition called spontaneous pneumothorax. A pneumothorax is an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung. Affected individuals tend to have small pockets of air (blebs) in lung tissue that sometimes leak into the chest cavity. These cases are described as spontaneous because they occur in the absence of injury or lung disease. Spontaneous pneumothorax associated with FLCN mutations seems to occur without the other characteristic features of Birt-Hogg-Dubé syndrome (such as skin growths or kidney tumors). It remains unclear how this lung condition results from mutations in the FLCN gene.

other cancers - associated with the FLCN gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, called somatic mutations, are not inherited. Somatic mutations in the FLCN gene are probably associated with several types of nonhereditary (sporadic) tumors. Specifically, somatic FLCN mutations have been identified in some cases of clear cell renal carcinoma (a type of kidney cancer) and in some colon cancers. These mutations may change the structure of the folliculin protein, disrupting its normal function. Researchers do not know how FLCN mutations lead to these particular forms of cancer.

Where is the FLCN gene located?

Cytogenetic Location: 17p11.2

Molecular Location on chromosome 17: base pairs 17,115,525 to 17,140,501

The FLCN gene is located on the short (p) arm of chromosome 17 at position 11.2.

The FLCN gene is located on the short (p) arm of chromosome 17 at position 11.2.

More precisely, the FLCN gene is located from base pair 17,115,525 to base pair 17,140,501 on chromosome 17.

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 FLCN?

You and your healthcare professional may find the following resources about FLCN helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bhd)

  • Gene Tests - DNA tests ordered by healthcare professionals

    • Gene Tests: Birt-Hogg-Dube Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/248467)
    • Gene Tests: Spontaneous Pneumothorax (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/17188)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((FLCN%5BTIAB%5D)%20OR%20(folliculin%5BTIAB%5D))%20OR%20((BHD%5BTIAB%5D)%20OR%20(FLCL%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • FOLLICULIN (http://omim.org/entry/607273)
    • PNEUMOTHORAX, PRIMARY SPONTANEOUS (http://omim.org/entry/173600)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_FLCN.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/201163)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=201163)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=27310)

What other names do people use for the FLCN gene or gene products?

  • BHD
  • FLCL
  • FLCN_HUMAN
  • MGC17998
  • MGC23445

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 FLCN?

acids ; amino acid ; cancer ; carcinoma ; cell ; clear cell renal carcinoma ; colon ; cytoskeleton ; endocytosis ; gene ; injury ; kidney ; mutation ; phagocytosis ; placenta ; pneumothorax ; protein ; renal ; somatic mutation ; spontaneous ; sporadic ; syndrome ; testis ; tissue ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet. 2003 Nov;40(11):820-4. (http://www.ncbi.nlm.nih.gov/pubmed/14627671?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/201163)
  • Graham RB, Nolasco M, Peterlin B, Garcia CK. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med. 2005 Jul 1;172(1):39-44. Epub 2005 Apr 1. (http://www.ncbi.nlm.nih.gov/pubmed/15805188?dopt=Abstract)
  • Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT. Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours. J Med Genet. 2003 Jul;40(7):511-5. (http://www.ncbi.nlm.nih.gov/pubmed/12843323?dopt=Abstract)
  • Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002 Aug;2(2):157-64. (http://www.ncbi.nlm.nih.gov/pubmed/12204536?dopt=Abstract)
  • Painter JN, Tapanainen H, Somer M, Tukiainen P, Aittomäki K. A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet. 2005 Mar;76(3):522-7. Epub 2005 Jan 18. (http://www.ncbi.nlm.nih.gov/pubmed/15657874?dopt=Abstract)
  • Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005 Jun;76(6):1023-33. Epub 2005 Apr 25. (http://www.ncbi.nlm.nih.gov/pubmed/15852235?dopt=Abstract)
  • Shin JH, Shin YK, Ku JL, Jeong SY, Hong SH, Park SY, Kim WH, Park JG. Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability. J Med Genet. 2003 May;40(5):364-7. (http://www.ncbi.nlm.nih.gov/pubmed/12746401?dopt=Abstract)
  • Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA, Merino MJ, Walther MM, Zbar B, Linehan WM. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst. 2005 Jun 15;97(12):931-5. Erratum in: J Natl Cancer Inst. 2005 Jul 20;97(14):1096. (http://www.ncbi.nlm.nih.gov/pubmed/15956655?dopt=Abstract)
  • Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol. 2004 Aug;17(8):998-1011. (http://www.ncbi.nlm.nih.gov/pubmed/15143337?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: March 2006
Published: May 21, 2012