Aliases for KAT6B Gene
External Ids for KAT6B Gene
Previous HGNC Symbols for KAT6B Gene
Previous GeneCards Identifiers for KAT6B Gene
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]
GeneCards Summary for KAT6B Gene
KAT6B (K(Lysine) Acetyltransferase 6B) is a Protein Coding gene. Diseases associated with KAT6B include genitopatellar syndrome and sbbyss syndrome. Among its related pathways are RNA Polymerase I Promoter Opening and RNA Polymerase I Promoter Opening. GO annotations related to this gene include transcription factor binding and acetyltransferase activity. An important paralog of this gene is KAT8.
UniProtKB/Swiss-Prot for KAT6B Gene
Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.