KMT2D是抑癌基因，编码蛋白是组蛋白甲基转移酶MLL2，一种表观遗传调节剂，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。人类细胞中MLL2的缺失会因为转录压力而导致基因组不稳定性。在小鼠模型中，MLL2的丧失导致B细胞恶化加速，B细胞分化受损，和类别转换的缺陷。MLL2活性对MLL1重排白血病生存和增殖的至关重要。虽然MLL2突变在人类癌症中不如MLL1常见，但MLL2在卵泡和弥漫性大B细胞淋巴瘤中反复发生突变的基因之一。

KMT2D encodes the histone methyltransferase MLL2, 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. Deletion of MLL2 in human cells leads to genomic instability due to transcriptional stress. In murine models, loss of MLL2 results in accelerated B cell malignancy, impaired B cell differentiation, and defects in class switching. MLL2 activity is critical for the survival and proliferation of MLL1-rearranged leukemias. Though MLL2 is not as commonly mutated as MLL1 in human cancers, MLL2 is one of the most recurrently mutated genes in follicular and diffuse large B cell lymphoma.

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