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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed August 2013

What is the official name of the MEN1 gene?

The official name of this gene is “menin 1.”

MEN1 is the gene's official symbol. The MEN1 gene is also known by other names, listed below.

What is the normal function of the MEN1 gene?

The MEN1 gene provides instructions for making a protein called menin. This protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. Although the exact function of menin is unclear, it is likely involved in several important cell functions. For example, it may play a role in copying and repairing DNA and regulating the controlled self-destruction of cells (apoptosis). The menin protein is present in the nucleus of many different types of cells and appears to be active in all stages of development.

Menin interacts with many other proteins, including several transcription factors. Transcription factors bind to specific areas of DNA and help control whether particular genes are turned on or off. Some of these genes likely play a role in cell growth and division. Researchers are working to identify the proteins that interact with menin and determine its specific role as a tumor suppressor.

How are changes in the MEN1 gene related to health conditions?

familial isolated hyperparathyroidism - caused by mutations in the MEN1 gene

Mutations in the MEN1 gene have been found in some cases of familial isolated hyperparathyroidism, a condition characterized by overactivity of the parathyroid glands (primary hyperparathyroidism). These glands help control the normal balance of calcium in the blood. This balance is disrupted in familial isolated hyperparathyroidism, which can lead to high blood calcium levels (hypercalcemia), kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. Primary hyperparathyroidism is the most common sign of another condition called multiple endocrine neoplasia type 1 (described below); however, familial isolated hyperparathyroidism is diagnosed in people with hyperparathyroidism but not the other features of multiple endocrine neoplasia type 1.

Many of the mutations in the MEN1 gene that are associated with familial isolated hyperparathyroidism change single protein building blocks (amino acids) in the menin protein. It is thought that these amino acid changes impair menin's ability to interact with other proteins. Without normal menin function, cells likely divide too frequently, leading to the formation of tumors involving the parathyroid glands. Researchers speculate that the mutations that cause familial isolated hyperparathyroidism have a milder effect on the function of menin than the mutations that cause multiple endocrine neoplasia type 1. Occasionally, individuals with familial isolated hyperparathyroidism later develop features of multiple endocrine neoplasia type 1, although most never do. Familial isolated hyperparathyroidism caused by MEN1 gene mutations may be an early or mild form of multiple endocrine neoplasia type 1.

multiple endocrine neoplasia - caused by mutations in the MEN1 gene

More than 1,300 mutations in the MEN1 gene have been found to cause multiple endocrine neoplasia type 1. Multiple endocrine neoplasia typically involves the development of tumors in two or more of the body's hormone-producing glands, called endocrine glands. These tumors can be noncancerous or cancerous. The most common endocrine glands affected in multiple endocrine neoplasia type 1 are the parathyroid glands, the pituitary gland, and the pancreas, although additional endocrine glands and other organs can also be involved.

Most of the MEN1 gene mutations that cause multiple endocrine neoplasia type 1 lead to the production of an abnormally short, inactive version of menin or an unstable protein that is rapidly broken down. As a result of these mutations, one copy of the MEN1 gene in each cell makes no functional protein. If the second copy of the MEN1 gene is also altered, the cell has no working copies of the gene and does not produce any functional menin. For unknown reasons, a second mutation occurs most often in cells of the endocrine glands. Without menin, these cells can divide too frequently and form a tumor. Although menin appears to be necessary for preventing tumor formation, researchers have not determined how a lack of this protein leads to the specific tumors characteristic of multiple endocrine neoplasia type 1.

other tumors - associated with the MEN1 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 MEN1 gene have been identified in several types of nonhereditary (sporadic) tumors. Specifically, MEN1 gene mutations have been found in a significant percentage of noncancerous tumors of the parathyroid glands (parathyroid adenomas); pancreatic tumors called nonfunctioning neuroendocrine tumors, gastrinomas, and insulinomas; and cancerous tumors of the major airways in the lungs (bronchi) called bronchial carcinoids. Many of these tumor types are also found in people who have multiple endocrine neoplasia type 1 (described above). As in multiple endocrine neoplasia, tumors occur only when both copies of the MEN1 gene are inactivated in certain cells.

Where is the MEN1 gene located?

Cytogenetic Location: 11q13

Molecular Location on chromosome 11: base pairs 64,803,514 to 64,811,294

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The MEN1 gene is located on the long (q) arm of chromosome 11 at position 13.

The MEN1 gene is located on the long (q) arm of chromosome 11 at position 13.

More precisely, the MEN1 gene is located from base pair 64,803,514 to base pair 64,811,294 on chromosome 11.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about MEN1?

You and your healthcare professional may find the following resources about MEN1 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 MEN1 gene or gene products?

  • MEAI
  • menin
  • multiple endocrine neoplasia I

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding MEN1?

acids ; amino acid ; apoptosis ; bronchi ; calcium ; cell ; DNA ; familial ; gene ; genome ; hormone ; hypercalcemia ; hyperparathyroidism ; hyperplasia ; hypertension ; inherited ; kidney ; kidney stones ; mutation ; neoplasia ; nucleus ; pancreas ; pancreatic ; parathyroid ; pituitary gland ; protein ; sign ; sporadic ; transcription ; tumor

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


  • Agarwal SK, Kennedy PA, Scacheri PC, Novotny EA, Hickman AB, Cerrato A, Rice TS, Moore JB, Rao S, Ji Y, Mateo C, Libutti SK, Oliver B, Chandrasekharappa SC, Burns AL, Collins FS, Spiegel AM, Marx SJ. Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res. 2005 Jun;37(6):369-74. Review. (
  • Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Molecular pathology of the MEN1 gene. Ann N Y Acad Sci. 2004 Apr;1014:189-98. Review. (
  • Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C. Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clin Endocrinol (Oxf). 2006 Feb;64(2):146-52. (
  • Davenport C, Agha A. The role of menin in parathyroid tumorigenesis. Adv Exp Med Biol. 2009;668:79-86. Review. (
  • Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV. Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8. (
  • La P, Desmond A, Hou Z, Silva AC, Schnepp RW, Hua X. Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. Oncogene. 2006 Jun 15;25(25):3537-46. Epub 2006 Jan 30. (
  • Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 2008 Jan;29(1):22-32. Review. (
  • Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May;5(5):367-75. Review. Erratum in: Nat Rev Cancer. 2005 Aug;5(8):663. (
  • Matkar S, Thiel A, Hua X. Menin: a scaffold protein that controls gene expression and cell signaling. Trends Biochem Sci. 2013 Aug;38(8):394-402. doi: 10.1016/j.tibs.2013.05.005. Epub 2013 Jul 10. Review. (
  • NCBI Gene (
  • Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf). 2003 May;58(5):639-46. (
  • Tsukada T, Nagamura Y, Ohkura N. MEN1 gene and its mutations: basic and clinical implications. Cancer Sci. 2009 Feb;100(2):209-15. doi: 10.1111/j.1349-7006.2008.01034.x. Review. (


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.

Reviewed: August 2013
Published: February 8, 2016