lysine acetyltransferase 6B
Última actualización 12 de abril de 2023
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El KAT6B gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to particular locations on histones, histone acetyltransferases control the activity of certain genes.
Normal function
El KAT6B gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to particular locations on histones, histone acetyltransferases control the activity of certain genes.
Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It is active in cells and tissues throughout the body, where it interacts with many other proteins. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.
Conditions referring to this gene or chromosome
Otros nombres
GTPTS
histone acetyltransferase KAT6B
histone acetyltransferase MORF
histone acetyltransferase MOZ2
histone acetyltransferase MYST4
K(lysine) acetyltransferase 6B
KAT6B_HUMAN
monocytic leukemia zinc finger protein-related factor
MORF
MOZ-related factor
MOZ2
MYST histone acetyltransferase (monocytic leukemia) 4
MYST-4
MYST4
qkf
querkopf
ZC2HC6B
Lecturas adicionales y referencias
- lysine acetyltransferase 6B; MedlinePlus, National Library of Medicine.
- Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.
- Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12.
- Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, Heng HH, Yang XJ. Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein. J Biol Chem. 1999 Oct 1;274(40):28528-36. doi: 10.1074/jbc.274.40.28528.
- Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.
- Kojima K, Kaneda K, Yoshida C, Dansako H, Fujii N, Yano T, Shinagawa K, Yasukawa M, Fujita S, Tanimoto M. A novel fusion variant of the MORF and CBP genes detected in therapy-related myelodysplastic syndrome with t(10;16)(q22;p13). Br J Haematol. 2003 Jan;120(2):271-3. doi: 10.1046/j.1365-2141.2003.04059.x.
- Moore SD, Herrick SR, Ince TA, Kleinman MS, Dal Cin P, Morton CC, Quade BJ. Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF. Cancer Res. 2004 Aug 15;64(16):5570-7. doi: 10.1158/0008-5472.CAN-04-0050.
- Panagopoulos I, Fioretos T, Isaksson M, Samuelsson U, Billstrom R, Strombeck B, Mitelman F, Johansson B. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). Hum Mol Genet. 2001 Feb 15;10(4):395-404. doi: 10.1093/hmg/10.4.395.
- Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.
- Yang XJ, Ullah M. MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells. Oncogene. 2007 Aug 13;26(37):5408-19. doi: 10.1038/sj.onc.1210609.
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12 de abril de 2023 | Última versión
1 Feb 2013 | Publicado originalmente
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