KAT6A
Description
The KAT6A (lysine acetyltransferase 6A) is a protein-coding gene located on chromosome 8.
KAT6A (K(lysine) acetyltransferase 6A) is an enzyme encoded by the KAT6A gene located on human chromosome 8. The KAT6A protein contains nuclear localization domains, a C2HC3 zinc finger, and an acetyltransferase domain, indicating a role as a chromatin-bound acetyltransferase. KAT6A is crucial for the proper development of hematopoietic stem cells. Arboleda-Tham syndrome (ARTHS), also known as KAT6A Syndrome, is a rare autosomal dominant developmental disorder caused by mutations in the KAT6A gene. Its features include developmental delay, intellectual impairment, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications.
KAT6A is a histone acetyltransferase that modifies lysine residues in histones H3 and H4. It is part of the MOZ/MORF complex, which exhibits histone H3 acetyltransferase activity. KAT6A might function as a transcriptional coactivator for RUNX1 and RUNX2. Additionally, it acetylates p53 at Lys-120 and Lys-382, influencing p53's transcriptional activity through its interaction with PML.
KAT6A is also known as ARTHS, MOZ, MRD32, MYST-3, MYST3, RUNXBP2, ZC2HC6A, ZNF220.
Associated Diseases
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Arboleda-Tham syndrome
