BCL6 corepressor
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The BCOR gene provides instructions for making a protein known as the BCL6 corepressor. A corepressor is a protein that cannot attach (bind) to DNA by itself, but it interacts with other DNA-binding proteins to suppress the activity of certain genes. In this case, the BCL6 corepressor partners with the DNA-binding protein produced from the BCL6 gene.
Normal function
The BCOR gene provides instructions for making a protein known as the BCL6 corepressor. A corepressor is a protein that cannot attach (bind) to DNA by itself, but it interacts with other DNA-binding proteins to suppress the activity of certain genes. In this case, the BCL6 corepressor partners with the DNA-binding protein produced from the BCL6 gene.
The BCL6 corepressor appears to play a critical role in early development, including the formation of the eyes and several other tissues and organs. Scientists believe that the BCL6 corepressor may also be involved in specifying the left and right sides of the body in the developing embryo. Research also shows that this protein may regulate development by influencing the self-destruction of cells that are damaged or no longer needed (apoptosis).
Conditions referring to this gene or chromosome
Other names
BCL-6 interacting corepressor
BCL6 co-repressor
BCOR_HUMAN
Leitura adicional e referências
- BCL6 corepressor; MedlinePlus, National Library of Medicine.
- Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. Hum Mol Genet. 2007 Jul 15;16(14):1773-82. doi: 10.1093/hmg/ddm125. Epub 2007 May 21.
- Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005 May;13(5):563-9. doi: 10.1038/sj.ejhg.5201391.
- Huynh KD, Fischle W, Verdin E, Bardwell VJ. BCoR, a novel corepressor involved in BCL-6 repression. Genes Dev. 2000 Jul 15;14(14):1810-23.
- Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004 Apr;36(4):411-6. doi: 10.1038/ng1321. Epub 2004 Mar 7.
- Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogne B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study; Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4.
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