KMT2C是抑癌基因，编码蛋白是组蛋白甲基转移酶MLL3，一种表观遗传调节剂，甲基化组蛋白H3（H3K4）尾部的赖氨酸残基4。H3K4的甲基化会引起基因组的可接触性的增加，转录复合物的募集，以及基因表达的激活。MLL3特异性地结合组蛋白在增强子的区域，导致多种靶基因的表达增加和调节增强子RNA的合成。MLL3普遍表达，其功能对正常胚胎发育和细胞增殖至关重要。含有KMT2C的区域的遗传缺失是急性髓性白血病中最常见的染色体异常，并且KMT2C在各种实体瘤和血液肿瘤中发生突变。

KMT2C encodes the histone methyltransferase MLL3, an epigenetic modulator that methylates lysine residue 4 on the tail of histone H3 (H3K4). Methylation of H3K4 leads to increased genome accessibility, recruitment of transcriptional complexes, and activation of gene expression. MLL3 specifically binds histones at enhancer regions, leading to increased expression of a wide range of target genes and regulation of enhancer RNA synthesis. MLL3 is ubiquitously expressed and its function is crucial for normal embryonal development and cell proliferation. Genetic deletion of the region containing KMT2C is the most common chromosomal abnormality in acute myeloid leukemia, and KMT2C is mutated in various types of cancer.

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