Recombinant Human Histone acetyltransferase KAT6B (KAT6B), partial

1. KAT6B mutation is associated with Craniosynostosis. PMID: 28696035
2. chronic inflammation compromises unfolded protein response function through MORF-mediated-PERK transcription. PMID: 27447113
3. With ptosis, hypotonia, and developmental delay as the main diagnostic features of our patient, the effect of histone acetyltransferase-encoding KAT6B gene haploinsufficiency was suspected to have a significant role in determining the phenotype. PMID: 27880066
4. Study identified the double plant homeodomain finger (DPF) of the lysine acetyltransferase MORF as a reader of global histone H3K14 acylation. PMID: 28286003
5. Our findings support that phenotypes associated with typical KAT6B disease-causing variants should be referred to as 'KAT6B spectrum disorders' or 'KAT6B related disorders', rather than their current SBBYSS and GTPTS classification PMID: 27452416
6. Studies show that misregulation of MOZ/MORF results in tumorigenesis and developmental disorders. Results also provide evidence that these 2 proteins play important role in regulating cell proliferation and stem cell maintenance. [review] PMID: 27185879
7. Kat6 c.3147G>A splice site mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. PMID: 26334766
8. KAT6B sequence variants are being reported in the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome. PMID: 25424711
9. This study shown MYST4 to be the risk factor for attention deficit/hyperactivity disorder. PMID: 25840828
10. Homozygous deletions of KAT6B and the loss of its mRNA occur in SCLC cell lines and primary tumors. KAT6B loss enhances cancer growth. Restoration induces tumor suppressor-like features involving a new type of histone H3 Lys23 acetyltransferase activity. PMID: 26208904
11. The relationship between MYO1C and KAT6B suggests that the two are interacting in chromatin remodelling for gene expression in human masseter muscle. This is the nuclear myosin1 (NM1) function of MYO1C. PMID: 24698832
12. Similar to those observed in other genetic disorders resulting from KAT6B mutations. PMID: 24458743
13. The study showed that markers rs11001178 (MYST4) showed weak associations. PMID: 24444492
14. MORF double PHD finger binds to Histone H3 in a manner that is enhanced by acetylation of the lysine residues K9 and K14 PMID: 24150941
15. Our results confirm the implication of KAT6B mutations in typical SBBYS syndrome and emphasize the importance of genotype-phenotype correlations at the KAT6B locus. PMID: 23436491
16. Propose that haploinsufficiency or loss of a function mediated by the C-terminal domain causes the common features, whereas gain-of-function activities would explain the features unique to genitopatellar syndrome. Review. PMID: 22715153
17. These data suggest that the tandem of plant homeodomain 1/2 fingers play a role in MOZ and MORF histone acetyltransferase association with histon H3 regions enriched in acetylated marks. PMID: 23063713
18. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B. PMID: 22265014
19. we identified de novo mutations of KAT6B in five individuals with Genitopatellar syndrome. PMID: 22265017
20. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome PMID: 22077973
21. Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF). PMID: 21880731
22. Data show that H3 acetylation by Myst4 is important for neural, craniofacial, and skeletal morphogenesis, mainly through its ability to specifically regulating the MAPK signaling pathway. PMID: 21804188
23. role in regulating interleukin-5 expression PMID: 15271374
24. These findings indicate that BRPF proteins play a key role in assembling and activating MOZ/MORF acetyltransferase complexes. PMID: 18794358

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HGNC: 17582

OMIM: 603736

KEGG: hsa:23522

STRING: 9606.ENSP00000287239

UniGene: Hs.35758