KAT6B, Official Symbol KAT6Bprovided by HGNC Official Full Name lysine acetyltransferase 6Bprovided by HGNC Primary source HGNC:HGNC:17582 See related Ensembl:ENSG00000156650 MIM:605880; AllianceGenome:HGNC:17582 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf 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] Expression Ubiquitous expression in ovary (RPKM 9.9), testis (RPKM 7.9) and 25 other tissues See more Orthologs mouse all