KAT6A (Lysine Acetyltransferase 6A), also known as MOZ or MYST3, is a histone acetyltransferase that plays crucial roles in gene transcription regulation, chromatin remodeling, and normal hematopoiesis. KAT6A is frequently involved in chromosomal rearrangements in leukemia.
| Property |
Value |
| Gene Symbol |
KAT6A |
| Gene Name |
Lysine Acetyltransferase 6A |
| Aliases |
MOZ, MYST3, ZNF220 |
| Chromosomal Location |
8p11.21 |
| NCBI Gene ID |
9869 |
| OMIM |
603408 |
| UniProt |
Q9Y5V0 |
| Ensembl |
ENSG00000108924 |
KAT6A encodes a histone acetyltransferase with the following domains:
¶ Catalytic Domains
- MYST Domain: Core acetyltransferase domain
- HMG Domain: DNA-binding domain
- PHD Zinc Fingers: Chromatin reader domains
KAT6A acetylates:
- Histone H3 (particularly H3K9, H3K14)
- Histone H4
KAT6A regulates gene expression through histone acetylation:
- Transcriptional activation
- Chromatin opening
- Co-activator recruitment
Essential for normal blood cell development:
- Hematopoietic stem cell function
- Myeloid differentiation
- Lymphocyte development
KAT6A is a known leukemia driver:
- Chromosomal translocations (e.g., t(8;16) in AML)
- Fusion proteins with CREBBP, EP300
- Myelodysplastic syndromes
KAT6A mutations cause:
- Intellectual disability
- Developmental delay
- Craniofacial abnormalities
KAT6A is a potential therapeutic target:
- HDAC inhibitors in KAT6A-driven leukemia
- Epigenetic therapy approaches
KAT6A is a histone acetyltransferase essential for transcription regulation and hematopoiesis, with frequent involvement in leukemia through chromosomal rearrangements.
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