菜单 基因医生

该基因编码的蛋白质是组蛋白乙酰转移酶，是moz/morf蛋白复合物的组成部分。除乙酰转移酶活性外，编码蛋白的n末端具有转录激活活性，c末端具有转录抑制活性。这种蛋白是RUNX2依赖性转录激活所必需的，可能参与大脑发育基因突变已经在遗传性髌骨综合征患者中发现。这个基因和CREBBP基因的易位导致急性髓性白血病已经发现了三个编码不同亚型的转录变体[由RefSeq提供，2012年3月]
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]