menin 1
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The MEN1 gene provides instructions for making a protein called menin. This protein acts as a tumour suppressor, which means that it keeps cells from growing and dividing (proliferating) too fast or in an uncontrolled way. Menin is present in the nucleus of many different types of cells and is likely involved in several important cell functions. It may play a role in copying and repairing DNA and in regulating the controlled self-destruction of cells (apoptosis).
Normal function
The MEN1 gene provides instructions for making a protein called menin. This protein acts as a tumour suppressor, which means that it keeps cells from growing and dividing (proliferating) too fast or in an uncontrolled way. Menin is present in the nucleus of many different types of cells and is likely involved in several important cell functions. It may play a role in copying and repairing DNA and in regulating the controlled self-destruction of cells (apoptosis).
Menin interacts with many other proteins, including several transcription factors. Transcription factors bind to specific areas of DNA and help turn particular genes on or off. Some of these genes likely play a role in cell proliferation.
Conditions referring to this gene or chromosome
Altri nomi
MEAI
MEN1_HUMAN
menin
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Ulteriori letture e riferimenti
- menin 1; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1055/s-2005-870139.
- 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. doi: 10.1196/annals.1294.020.
- Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregossa L, Oppo A, Marcocci C. Whole exome sequencing in familial isolated primary hyperparathyroidism. J Endocrinol Invest. 2020 Feb;43(2):231-245. doi: 10.1007/s40618-019-01107-5. Epub 2019 Sep 5.
- Davenport C, Agha A. The role of menin in parathyroid tumorigenesis. Adv Exp Med Biol. 2009;668:79-86. doi: 10.1007/978-1-4419-1664-8_8.
- 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. doi: 10.1038/ncpendmet0718.
- 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. doi: 10.1038/sj.onc.1209400. 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. doi: 10.1002/humu.20605.
- Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May;5(5):367-75. doi: 10.1038/nrc1610.
- 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.
- 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. doi: 10.1046/j.1365-2265.2003.01765.x.
- 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.
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