STK11 gene
The STK11 gene provides instructions for making an enzyme that acts as a tumor suppressor, helping to regulate cell growth and division.
Normal Function
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. 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. In addition to its role as a tumor suppressor, serine/threonine kinase 11 function appears to be required for normal development before birth.
Health Conditions Related to Genetic Changes
Breast cancer
Inherited changes in the STK11 gene greatly increase the risk of developing breast cancer, as well as other types of cancer, as part of Peutz-Jeghers syndrome. These mutations are thought to account for only a small fraction of all breast cancer cases.
Peutz-Jeghers syndrome
Inherited mutations in the STK11 gene 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 several types of cancer. More than 340 STK11 gene mutations have been identified in people with this condition. Many of these mutations result in the production of an abnormally short, nonfunctional version of the serine/threonine kinase 11 enzyme. Mutations in the STK11 gene impair the enzyme's tumor suppressor function, allowing cells to grow and divide without control or order.
Other cancers
Noninherited (somatic) mutations in the STK11 gene have been found in various forms of cancer, including:
- Non-small cell lung carcinoma
- Cervical cancer
- Colorectal cancer
- Melanoma
- Pancreatic cancer
These somatic mutations impair the function of serine/threonine kinase 11, which can allow cells to grow and divide uncontrollably and contribute to the formation of a cancerous tumor.
Other Names for This Gene
- LKB1
- PJS
- serine/threonine kinase 11 (Peutz-Jeghers syndrome)
- Serine/threonine-protein kinase 11
- STK11_HUMAN
Genomic Location
The STK11 gene is found on chromosome 19.
