Reviewed August 2007
What is the official name of the PTEN gene?
The official name of this gene is “phosphatase and tensin homolog (mutated in multiple advanced cancers 1).”
PTEN is the gene's official symbol. The PTEN gene is also known by other names, listed below.
What is the normal function of the PTEN gene?
The PTEN gene provides instructions for making a protein that is found in almost all tissues in the body. This protein acts as a tumor suppressor, which means that it helps regulate the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. The PTEN protein modifies other proteins and fats (lipids) by removing phosphate groups, which consist of three oxygen atoms and one phosphorus atom. Based on this activity, the PTEN protein is a type of enzyme called a phosphatase.
The PTEN enzyme acts as part of a chemical pathway that signals cells to stop dividing and triggers cells to undergo a form of programmed cell death called apoptosis. These functions prevent uncontrolled cell growth that can lead to the formation of tumors. Evidence also suggests that the PTEN enzyme helps control cell movement (migration), the sticking (adhesion) of cells to surrounding tissues, and the formation of new blood vessels (angiogenesis). Additionally, the enzyme likely plays a role in maintaining the stability of a cell's genetic information.
Does the PTEN gene share characteristics with other genes?
The PTEN gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
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 PTEN gene related to health conditions?
-
Cowden syndrome - caused by mutations in the PTEN gene
-
Researchers have identified more than 100 mutations in the PTEN gene that can cause Cowden syndrome. These genetic changes are often inherited from a parent and affect all of the body's cells. Mutations in the PTEN gene include changes in a small number of DNA building blocks (base pairs) and, in some cases, deletions of a large number of base pairs from the gene. PTEN mutations lead to the production of an enzyme that does not function properly or does not work at all. The defective enzyme is unable to restrain cell division or signal abnormal cells to die, which can contribute to the development of noncancerous growths called hamartomas and cancerous tumors.
-
breast cancer - increased risk from variations of the PTEN gene
-
Changes in the PTEN gene increase the risk of developing breast cancer as part of a rare inherited cancer syndrome called Cowden syndrome. These inherited mutations are thought to account for only a small fraction of all breast cancer cases.
- other disorders - caused by mutations in the PTEN gene
-
Mutations in the PTEN gene cause several other disorders that are characterized by the development of noncancerous tumor-like growths called hamartomas. These disorders include Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome. Together, these disorders are called PTEN hamartoma tumor syndromes (PHTS). The mutations responsible for these syndromes are present in all of the body's cells and are often inherited from a parent. Some of these mutations lead to a defective version of the PTEN enzyme that cannot perform its function as a tumor suppressor. Other mutations prevent the PTEN gene from producing any enzyme at all. Without the PTEN enzyme, cells can divide in an uncontrolled way and damaged cells continue to divide inappropriately, leading to the development of hamartomas.
Researchers have also identified PTEN mutations in several people who have both an unusually large head size (macrocephaly) and the characteristic features of autism, a developmental disorder that affects communication and social interaction. Many of these mutations change single protein building blocks (amino acids) in the PTEN enzyme or lead to the production of an abnormally short version of the enzyme. It is unclear how changes in the PTEN gene are related to the risk of developing autism. Some of these mutations have also been reported in families with Cowden syndrome and other PTEN hamartoma tumor syndromes.
- other cancers - associated with the PTEN 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 PTEN gene are among the most common genetic changes found in human cancers. These mutations occur only in tumor cells.
Studies suggest that PTEN may be the most frequently mutated gene in prostate cancer and in cancer of the uterine lining (endometrial cancer). PTEN mutations also have been identified in several other types of cancer, including certain aggressive brain tumors (glioblastomas and astrocytomas) and an aggressive form of skin cancer called melanoma. Mutations in the PTEN gene result in an altered enzyme that has lost its tumor suppressor function. The loss of this enzyme likely permits certain cells to divide uncontrollably, contributing to the growth of cancerous tumors. In some cases, the presence of PTEN mutations is associated with more advanced stages of tumor growth.
Where is the PTEN gene located?
Cytogenetic Location: 10q23.3
Molecular Location on chromosome 10: base pairs 89,613,174 to 89,716,381
The PTEN gene is located on the long (q) arm of chromosome 10 at position 23.3.
More precisely, the PTEN gene is located from base pair 89,613,174 to base pair 89,716,381 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PTEN?
You and your healthcare professional may find the following resources about PTEN helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
-
OMIM - Genetic disorder catalog (4 links)
-
What other names do people use for the PTEN gene or gene products?
- BZS
- MHAM
- MMAC1
- mutated in multiple advanced cancers 1
- phosphatase and tensin homolog
- Protein-tyrosine phosphatase PTEN
- PTEN1
- PTEN_HUMAN
- PTEN-MMAC1 protein
- TEP1
- TEP1 phosphatase
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 PTEN?
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.