Gene Symbol | KAT6B |
Entrez Gene ID | 23522 |
Full Name | lysine acetyltransferase 6B |
Synonyms | GTPTS,MORF,MOZ2,MYST4,ZC2HC6B,qkf,querkopf |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | SBBYSS syndrome, 603736 (3); Genitopatellar syndrome, 606170 (3) |