DNMT3A是抑癌基因，编码蛋白是DNA甲基转移酶，负责在CpG位点建立从头基因组DNA甲基化。DNMT3A与DNMT3B（另一个从头合成的甲基转移酶）和DNMT1（一个维持性甲基转移酶）协同作用，并由非催化亚基DNMT3L辅助。CpG甲基化对于维持表观遗传组织特异性的基因表达模式、基因组印记、X染色体失活、寄生DNA序列沉默、基因组的完整性具有重要意义。DNMT3A的胚系突变与Tatton-Brown-Rahman过度生长综合征中发生突变，该综合征伴有智力缺陷；过表达与黑色素瘤和肝细胞癌有关。DNMT3A在初发急性髓细胞白血病（AML）中经常发生突变（占所有病例的30%），在继发性急性髓系白血病、骨髓增生性肿瘤、骨髓增生异常综合征和T细胞急性淋巴细胞白血病（T-ALL）突变频率较低。

DNMT3A is a DNA methyltransferase that is responsible for establishing de novo genomic DNA methylation at CpG sites. DNA methylation at gene promoters predominantly results in gene repression by precluding the binding of important transcriptional machinery. DNMT3A functions in concert with another de novo methyltransferase, DNMT3B, and a maintenance methyltransferase DNMT1, assisted by non-catalytic subunit DNMT3L. CpG methylation is important for maintaining epigenetic tissue-specific gene expression patterns, genomic imprinting, X-chromosome inactivation, silencing of parasitic DNA sequences and genome integrity. Germline mutations in DNMT3A result in Tatton-Brown-Rahman overgrowth syndrome, a disorder associated with intellectual disability, and overexpression has been linked to melanoma and hepatocellular carcinoma. DNMT3A is recurrently mutated in de novo acute myeloid leukemia (AML) (up to 30% of all cases) , and at lower frequencies in secondary acute myeloid leukemia, myeloproliferative neoplasms, myelodysplastic syndromes and in T-cell acute lymphoblastic leukemia (T-ALL).

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