Gene: KAT6B

Alternate names for this Gene: GTPTS|MORF|MOZ2|MYST4|ZC2HC6B|qkf|querkopf

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.2

Description of this Gene: lysine acetyltransferase 6B

Type of Gene: protein-coding

Gene: DUPD1

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rs1564632652 in KAT6B;DUPD1 gene and Genitopatellar Syndrome PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

rs199470482 in KAT6B;DUPD1 gene and Young Simpson syndrome PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.