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 say-barber-biesecker variant of ohdo syndrome and blepharophimosis-intellectual disability syndrome, sbbys type. Among its related pathways are Chromatin organization. GO annotations related to this gene include transcription factor binding and transferase activity, transferring acyl groups other than amino-acyl groups. 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.