MYST4

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KAT6B
Identifiers
Aliases KAT6B, GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf, lysine acetyltransferase 6B
External IDs HomoloGene: 49310 GeneCards: KAT6B
RNA expression pattern
PBB GE MYST4 212452 x at fs.png

PBB GE MYST4 211874 s at fs.png

PBB GE MYST4 212462 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001256468
NM_001256469
NM_012330

n/a

RefSeq (protein)

NP_001243397
NP_001243398
NP_036462

n/a

Location (UCSC) Chr 10: 74.83 – 75.03 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Histone acetyltransferase MYST4 is an enzyme that in humans is encoded by the MYST4 gene.[2][3][4]

Interactions[edit]

MYST4 has been shown to interact with RUNX2.[5]

Young Simpson syndrome[edit]

It has been demonstrated that de novo mutations in the gene MYST4 causes the Young Simpson syndrome and genitopatellar syndrome.[6][7][8][9]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ "Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4". 
  5. ^ Pelletier N, Champagne N, Stifani S, Yang XJ (Apr 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene. 21 (17): 2729–40. doi:10.1038/sj.onc.1205367. PMID 11965546. 
  6. ^ 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. PMC 3276659Freely accessible. PMID 22265014. 
  7. ^ 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 (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. 89 (5): 675–81. doi:10.1016/j.ajhg.2011.10.008. PMC 3213399Freely accessible. PMID 22077973. 
  8. ^ 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 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. PMC 3276659Freely accessible. PMID 22265014. 
  9. ^ 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[edit]

External links[edit]

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