KAT6B

A gene on chromosome 10q22.2 that encodes a histone acetyltransferase which, depending on the context, up- or downregulates transcription. KAT6B is required for RUNX2-dependent transcriptional activation and may be involved in development of the cerebral cortex. It is part of the MOZ/MORF complex, which has histone H3 acetyltransferase activity.
Molecular pathology
Defects in KAT6B are a cause of genitopatellar syndrome and Ohdo syndrome (SBBYS variant). Chromosomal defects of KAT6B have been linked to acute myeloid leukaemias via translocation t(10;16)(q22;p13) with CREBBP.

单词	kat6b
释义	DictionarySeeMorF KAT6B KAT6B A gene on chromosome 10q22.2 that encodes a histone acetyltransferase which, depending on the context, up- or downregulates transcription. KAT6B is required for RUNX2-dependent transcriptional activation and may be involved in development of the cerebral cortex. It is part of the MOZ/MORF complex, which has histone H3 acetyltransferase activity. Molecular pathology Defects in KAT6B are a cause of genitopatellar syndrome and Ohdo syndrome (SBBYS variant). Chromosomal defects of KAT6B have been linked to acute myeloid leukaemias via translocation t(10;16)(q22;p13) with CREBBP.
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