cyclin dependent kinase inhibitor 1C
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The CDKN1C gene provides instructions for making a protein that helps regulate growth. This protein acts as a tumour suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. It is also active before birth; it regulates growth and prevents the developing fetus from becoming too large.
Normal function
The CDKN1C gene provides instructions for making a protein that helps regulate growth. This protein acts as a tumour suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. It is also active before birth; it regulates growth and prevents the developing fetus from becoming too large.
In most cases, one copy of each gene is derived from the sperm cell and one copy is derived from the egg cell. Both copies are typically active, or "turned on," in cells. However, the activity of the CDKN1C gene differs depending on whether the gene comes from the sperm cell or the egg cell. In most tissues, the copy of the gene that comes from the egg cell is more active than the copy that comes from the sperm cell. This sort of parent-specific difference in gene activation is called genomic imprinting.
A nearby region of DNA undergoes a process called methylation in which small molecules called methyl groups are used to regulate the genomic imprinting of the CDKN1C gene. This region is known as an imprinting center or imprinting control region. In most cases, this imprinting center is methylated only when it comes from the egg cell.
Conditions referring to this gene or chromosome
Other names
BWCR
KIP2
p57
p57KIP2
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Leitura adicional e referências
- cyclin dependent kinase inhibitor 1C; MedlinePlus, National Library of Medicine.
- Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.
- Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T. Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. Clin Epigenetics. 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y.
- Borges KS, Arboleda VA, Vilain E. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Div. 2015 Mar 28;10:2. doi: 10.1186/s13008-015-0008-8. eCollection 2015.
- Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergada I, Prawitt D, Begemann M. CDKN1C mutations: two sides of the same coin. Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25.
- Gurrieri F, Zollino M, Oliva A, Pascali V, Orteschi D, Pietrobono R, Camporeale A, Coll Vidal M, Partemi S, Brugada R, Bellocci F, Neri G. Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Eur J Hum Genet. 2013 Sep;21(9):965-9. doi: 10.1038/ejhg.2012.280. Epub 2013 Mar 20.
- Hamajima N, Johmura Y, Suzuki S, Nakanishi M, Saitoh S. Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. PLoS One. 2013 Sep 30;8(9):e75137. doi: 10.1371/journal.pone.0075137. eCollection 2013.
- Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenetics. 2020 Jun 16;12(1):86. doi: 10.1186/s13148-020-00865-x.
- Milani D, Pezzani L, Tabano S, Miozzo M. Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet. 2014 Sep 16;7:169-75. doi: 10.2147/TACG.S35474. eCollection 2014.
- Riccio A, Cubellis MV. Gain of function in CDKN1C. Nat Genet. 2012 Jun 27;44(7):737-8. doi: 10.1038/ng.2336. No abstract available.
- Romanelli V, Belinchon A, Benito-Sanz S, Martinez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, Garcia-Minaur S, Fernandez L, Meneses H, Lopez-Siguero JP, Guillen-Navarro E, Gomez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sanchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453.
- Saal HM, Harbison MD, Netchine I. Silver-Russell Syndrome. 2002 Nov 2 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1324/
- Shuman C, Kalish JM, Weksberg R. Beckwith-Wiedemann Syndrome. 2000 Mar 3 [updated 2023 Sep 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1394/
- Wang KH, Kupa J, Duffy KA, Kalish JM. Diagnosis and Management of Beckwith-Wiedemann Syndrome. Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. eCollection 2019.
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