MYST4

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K(lysine) acetyltransferase 6B
Identifiers
SymbolsKAT6B; GTPTS; MORF; MOZ2; MYST4; ZC2HC6B; qkf; querkopf
External IDsOMIM: 605880 MGI: 1858746 HomoloGene: 49310 GeneCards: KAT6B Gene
EC number2.3.1.48
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez2352254169
EnsemblENSG00000156650n/a
UniProtQ8WYB5Q8BRB7
RefSeq (mRNA)NM_001256468NM_001205241
RefSeq (protein)NP_001243397NP_001192170
Location (UCSC)Chr 10:
76.59 – 76.79 Mb
n/a
PubMed search

Histone acetyltransferase MYST4 is an enzyme that in humans is encoded by the MYST4 gene.[1][2][3]

Interactions

MYST4 has been shown to interact with RUNX2.[4]

Young Simpson syndrome

It has been demonstrated that de novo mutations in the gene MYST4 causes the Young Simpson syndrome and genitopatellar syndrome.[5][6][7] [8]

References

  1. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Sep 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841. 
  2. Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, Heng HH, Yang XJ (Nov 1999). "Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein". J Biol Chem 274 (40): 28528–36. doi:10.1074/jbc.274.40.28528. PMID 10497217. 
  3. "Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4". 
  4. Pelletier, Nadine; Champagne Nathalie, Stifani Stefano, Yang Xiang-Jiao (Apr 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene (England) 21 (17): 2729–40. doi:10.1038/sj.onc.1205367. ISSN 0950-9232. PMID 11965546. 
  5. 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 (Jan 18, 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome.". American Journal of Human Genetics 90 (2): 282–9. doi:10.1016/j.ajhg.2011.11.023. PMID 22265014. 
  6. Clayton-Smith, Jill; O'Sullivan James, Daly Sarah, Bhaskar Sanjeev, Day Ruth, Anderson Beverley, Voss Anne K, Thomas Tim, Biesecker Leslie G, Smith Philip, Fryer Alan, Chandler Kate E, Kerr Bronwyn, Tassabehji May, Lynch Sally-Ann, Krajewska-Walasek Malgorzata, McKee Shane, Smith Janine, Sweeney Elizabeth, Mansour Sahar, Mohammed Shehla, Donnai Dian, Black Graeme (Nov 2011). "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. (United States) 89 (5): 675–81. doi:10.1016/j.ajhg.2011.10.008. PMID 22077973. 
  7. Campeau, Philippe M; Kim Jaeseung C, Lu James T, Schwartzentruber Jeremy A, Abdul-Rahman Omar A, Schlaubitz Silke, Murdock David M, Jiang Ming-Ming, Lammer Edward J, Enns Gregory M, Rhead William J, Rowland Jon, Robertson Stephen P, Cormier-Daire Valérie, Bainbridge Matthew N, Yang Xiang-Jiao, Gingras Marie-Claude, Gibbs Richard A, Rosenblatt David S, Majewski Jacek, Lee Brendan H (Jan 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American journal of human genetics (in ENG) 90 (2): 282–9. doi:10.1016/j.ajhg.2011.11.023. PMID 22265014. 
  8. Campeau, PM; Lu, JT; Dawson, BC; Fokkema, IF; Robertson, SP; Gibbs, RA; Lee, BH (Jun 19, 2012). "The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.". Human Mutation 33 (11): 1520–5. doi:10.1002/humu.22141. PMID 22715153. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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