cyclin dependent kinase inhibitor 1B
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L CDKN1B gene provides instructions for making a protein called p27. This protein is found in cells and tissues throughout the body. Within cells, p27 is located primarily in the nucleus, where it plays a critical role in controlling cell growth and division. It helps regulate the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. Specifically, p27 normally blocks cells from entering the phase of the cell cycle when DNA is copied (replicated) in preparation for cell division. By blocking cell cycle progression, p27 prevents cells from dividing too quickly or at the wrong time. Based on this function, p27 is described as a tumour suppressor protein. Studies suggest that p27 is also involved in controlling cell differentiation, which is the process by which cells mature to carry out specific functions.
Normal function
L CDKN1B gene provides instructions for making a protein called p27. This protein is found in cells and tissues throughout the body. Within cells, p27 is located primarily in the nucleus, where it plays a critical role in controlling cell growth and division. It helps regulate the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. Specifically, p27 normally blocks cells from entering the phase of the cell cycle when DNA is copied (replicated) in preparation for cell division. By blocking cell cycle progression, p27 prevents cells from dividing too quickly or at the wrong time. Based on this function, p27 is described as a tumour suppressor protein. Studies suggest that p27 is also involved in controlling cell differentiation, which is the process by which cells mature to carry out specific functions.
Because p27 plays such a key role in controlling cell division, its activity is tightly regulated. Regulation can occur through modification of the p27 protein's structure, its interaction with other proteins, or its localization within the cell. For example, when p27 is held (sequestered) in the fluid that surrounds the nucleus (the cytoplasm) instead of being transported into the nucleus, the protein is unavailable to block cell cycle progression. Researchers believe that p27 may have other functions in the cytoplasm, but these functions have not been well described.
Conditions referring to this gene or chromosome
Altri nomi
CDKN4
CDN1B_HUMAN
cyclin-dependent kinase inhibitor 1B
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
KIP1
MEN1B
MEN4
P27KIP1
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Ulteriori letture e riferimenti
- cyclin dependent kinase inhibitor 1B; MedlinePlus, National Library of Medicine.
- Costa-Guda J, Marinoni I, Molatore S, Pellegata NS, Arnold A. Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas. J Clin Endocrinol Metab. 2011 Apr;96(4):E701-6. doi: 10.1210/jc.2010-1338. Epub 2011 Feb 2.
- Lee M, Pellegata NS. Multiple endocrine neoplasia type 4. Front Horm Res. 2013;41:63-78. doi: 10.1159/000345670. Epub 2013 Mar 19.
- Marinoni I, Pellegata NS. p27kip1: a new multiple endocrine neoplasia gene? Neuroendocrinology. 2011;93(1):19-28. doi: 10.1159/000320366. Epub 2010 Oct 27.
- Molatore S, Pellegata NS. The MENX syndrome and p27: relationships with multiple endocrine neoplasia. Prog Brain Res. 2010;182:295-320. doi: 10.1016/S0079-6123(10)82013-8.
- Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15558-63. doi: 10.1073/pnas.0603877103. Epub 2006 Oct 9.
- Pellegata NS. MENX and MEN4. Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):13-8. doi: 10.6061/clinics/2012(sup01)04.
- Tichomirowa MA, Lee M, Barlier A, Daly AF, Marinoni I, Jaffrain-Rea ML, Naves LA, Rodien P, Rohmer V, Faucz FR, Caron P, Estour B, Lecomte P, Borson-Chazot F, Penfornis A, Yaneva M, Guitelman M, Castermans E, Verhaege C, Wemeau JL, Tabarin A, Fajardo Montanana C, Delemer B, Kerlan V, Sadoul JL, Cortet Rudelli C, Archambeaud F, Zacharieva S, Theodoropoulou M, Brue T, Enjalbert A, Bours V, Pellegata NS, Beckers A. Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds. Endocr Relat Cancer. 2012 May 3;19(3):233-41. doi: 10.1530/ERC-11-0362. Print 2012 Jun.
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