RAD21 cohesin complex component
Última actualización 13 Abr 2022
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The RAD21 gene provides instructions for making a protein that is involved in regulating the structure and organisation of chromosomes during cell division.
Normal function
The RAD21 gene provides instructions for making a protein that is involved in regulating the structure and organisation of chromosomes during cell division.
Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. The RAD21 protein is part of a protein group called the cohesin complex that holds the sister chromatids together.
Researchers believe that the RAD21 protein, as a structural component of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and regulating the activity of certain genes that are essential for normal development.
Conditions referring to this gene or chromosome
Otros nombres
CDLS4
double-strand-break repair protein rad21 homolog
hHR21
HR21
HRAD21
KIAA0078
kleisin
MCD1
nuclear matrix protein 1
NXP-1
NXP1
RAD21 homolog
SCC1
SCC1 homolog
sister chromatid cohesion 1
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Lecturas adicionales y referencias
- RAD21 cohesin complex component; MedlinePlus, National Library of Medicine.
- Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24.
- Maas SM, Shaw AC, Bikker H, Ludecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Gronborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.
- McKay MJ, Troelstra C, van der Spek P, Kanaar R, Smit B, Hagemeijer A, Bootsma D, Hoeijmakers JH. Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse. Genomics. 1996 Sep 1;36(2):305-15. doi: 10.1006/geno.1996.0466.
- Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27.
- Sonoda E, Matsusaka T, Morrison C, Vagnarelli P, Hoshi O, Ushiki T, Nojima K, Fukagawa T, Waizenegger IC, Peters JM, Earnshaw WC, Takeda S. Scc1/Rad21/Mcd1 is required for sister chromatid cohesion and kinetochore function in vertebrate cells. Dev Cell. 2001 Dec;1(6):759-70. doi: 10.1016/s1534-5807(01)00088-0.
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