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Genetics Home Reference: your guide to understanding genetic conditions
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STK11

Reviewed August 2007

What is the official name of the STK11 gene?

The official name of this gene is “serine/threonine kinase 11.”

STK11 is the gene's official symbol. The STK11 gene is also known by other names, listed below.

What is the normal function of the STK11 gene?

The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from growing and dividing too fast or in an uncontrolled way. In addition to its role in regulating cell division, this enzyme helps certain types of cells correctly orient themselves within tissues (polarization) and assists in determining the amount of energy a cell uses. This kinase also promotes a type of programmed cell death known as apoptosis. Through a combination of these mechanisms, serine/threonine kinase 11 aids in the prevention of tumors, especially in the gastrointestinal tract, pancreas, cervix, ovaries, and breasts. Serine/threonine kinase 11 function is also required for normal development before birth.

How are changes in the STK11 gene related to health conditions?

Peutz-Jeghers syndrome - caused by mutations in the STK11 gene

Researchers have identified more than 200 mutations in the STK11 gene that cause Peutz-Jeghers syndrome, a condition characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract and a greatly increased risk of developing certain types of cancer. Many of these mutations result in the production of an abnormally short, nonfunctional version of the serine/threonine kinase 11 enzyme. Other mutations change single protein building blocks (amino acids) used to build the enzyme. Mutations in the STK11 gene impair the enzyme's tumor suppressor function, allowing cells to divide too often. The resulting uncontrolled cell growth can lead to the formation of hamartomatous polyps and cancerous tumors.

breast cancer - increased risk from variations of the STK11 gene

Changes in the STK11 gene increase the risk of developing breast cancer as part of Peutz-Jeghers syndrome (described above). These inherited mutations are thought to account for only a small fraction of all breast cancer cases.

other cancers - associated with the STK11 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the STK11 gene are uncommon in most types of cancer. However, these mutations have been found in a form of lung cancer called non-small cell lung carcinoma, an aggressive type of skin cancer called melanoma, and some cases of pancreatic cancer. These mutations impair the function of serine/threonine kinase 11, which can allow cells to grow and divide uncontrollably and lead to the formation of a cancerous tumor.

Where is the STK11 gene located?

Cytogenetic Location: 19p13.3

Molecular Location on chromosome 19: base pairs 1,205,798 to 1,228,434

The STK11 gene is located on the short (p) arm of chromosome 19 at position 13.3.

The STK11 gene is located on the short (p) arm of chromosome 19 at position 13.3.

More precisely, the STK11 gene is located from base pair 1,205,798 to base pair 1,228,434 on chromosome 19.

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 STK11?

You and your healthcare professional may find the following resources about STK11 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 STK11 gene or gene products?

  • LKB1
  • PJS
  • serine/threonine kinase 11 (Peutz-Jeghers syndrome)
  • Serine/threonine-protein kinase 11
  • STK11_HUMAN

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 STK11?

acids ; apoptosis ; cancer ; carcinoma ; cell ; cell division ; enzyme ; gastrointestinal ; gene ; hamartomatous ; inherited ; kinase ; melanoma ; pancreas ; pancreatic ; protein ; serine ; syndrome ; threonine ; threonine kinase ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).

References

  • Fenton H, Carlile B, Montgomery EA, Carraway H, Herman J, Sahin F, Su GH, Argani P. LKB1 protein expression in human breast cancer. Appl Immunohistochem Mol Morphol. 2006 Jun;14(2):146-53. (http://www.ncbi.nlm.nih.gov/pubmed/16785781?dopt=Abstract)
  • Gene Review: Peutz-Jeghers Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1266)
  • Hardie DG, Alessi DR. LKB1 and AMPK and the cancer-metabolism link - ten years after. BMC Biol. 2013 Apr 15;11:36. doi: 10.1186/1741-7007-11-36. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23587167?dopt=Abstract)
  • Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998 Jan 8;391(6663):184-7. (http://www.ncbi.nlm.nih.gov/pubmed/9428765?dopt=Abstract)
  • Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clin Genet. 2004 Jul;66(1):58-62. (http://www.ncbi.nlm.nih.gov/pubmed/15200509?dopt=Abstract)
  • Katajisto P, Vallenius T, Vaahtomeri K, Ekman N, Udd L, Tiainen M, Mäkelä TP. The LKB1 tumor suppressor kinase in human disease. Biochim Biophys Acta. 2007 Jan;1775(1):63-75. Epub 2006 Aug 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17010524?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6794)
  • Rowan A, Bataille V, MacKie R, Healy E, Bicknell D, Bodmer W, Tomlinson I. Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol. 1999 Apr;112(4):509-11. (http://www.ncbi.nlm.nih.gov/pubmed/10201537?dopt=Abstract)
  • Vaahtomeri K, Mäkelä TP. Molecular mechanisms of tumor suppression by LKB1. FEBS Lett. 2011 Apr 6;585(7):944-51. doi: 10.1016/j.febslet.2010.12.034. Epub 2010 Dec 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21192934?dopt=Abstract)
  • Wingo SN, Gallardo TD, Akbay EA, Liang MC, Contreras CM, Boren T, Shimamura T, Miller DS, Sharpless NE, Bardeesy N, Kwiatkowski DJ, Schorge JO, Wong KK, Castrillon DH. Somatic LKB1 mutations promote cervical cancer progression. PLoS One. 2009;4(4):e5137. doi: 10.1371/journal.pone.0005137. Epub 2009 Apr 2. (http://www.ncbi.nlm.nih.gov/pubmed/19340305?dopt=Abstract)
  • Zhong D, Guo L, de Aguirre I, Liu X, Lamb N, Sun SY, Gal AA, Vertino PM, Zhou W. LKB1 mutation in large cell carcinoma of the lung. Lung Cancer. 2006 Sep;53(3):285-94. Epub 2006 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/16822578?dopt=Abstract)
  • Zhuang ZG, Di GH, Shen ZZ, Ding J, Shao ZM. Enhanced expression of LKB1 in breast cancer cells attenuates angiogenesis, invasion, and metastatic potential. Mol Cancer Res. 2006 Nov;4(11):843-9. (http://www.ncbi.nlm.nih.gov/pubmed/17114342?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: August 2007
Published: May 4, 2015