| Entrez Gene ID |
23522 |
| Official Gene Symbol |
KAT6B (GeneCards) |
| Full name |
lysine acetyltransferase 6B |
| Location |
10q22.2 |
| Other ids |
Vega : OTTHUMG00000018509
MIM : 605880
HGNC : HGNC:17582
Ensembl : ENSG00000156650
|
| Other names |
qkf,
MORF,
MOZ2,
GTPTS,
MYST4,
ZC2HC6B,
qerkopf
|
| Summary |
The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] |