KAT6A

The KAT6A proteinomim.org/entry/601408 contains two nuclear localization domains, a C₂HC₃ zinc finger and an acetyltransferase domain. This structure suggests that KAT6A functions as a chromatin-bound acetyltransferase. KAT6A is important for the proper development of hematopoietic stem cells.{{cite journal |vauthors=Yang XJ, Ullah M | title = MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells | journal = Oncogene | volume = 26 | issue = 37 | pages = 5408–19 |date=August 2007 | pmid = 17694082 | doi = 10.1038/sj.onc.1210609 | doi-access = free }}

{{Main|Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome}}

Arboleda-Tham syndrome (ARTHS),{{cite web | url=https://www.omim.org/entry/616268 | title=OMIM Entry - # 616268 - ARBOLEDA-THAM SYNDROME; ARTHS }} also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant developmental disorder, caused by various missense, nonsense, and frameshift mutations in the KAT6A gene. The main characteristics of this syndrome are developmental delay, impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications. Kennedy, J., Goudie, D., Blair, E. et al. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med 21, 850–860 (2019). https://doi.org/10.1038/s41436-018-0259-2

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