NSD1编码蛋白是一种核转录因子，其被类固醇激素激活。NSD1具有作为双功能辅因子的独特作用，其可以正向和负向调节转录。是由类固醇激素激活的配体调节的核转录因子。NSD1作为一个双功能辅因子具有独特的作用，它可以正向和负向调节转录。另外，NSD1识别组蛋白赖氨酸并且含有组蛋白甲基转移酶活性，对H3K36和H4K20具有特异性。NSD1的胚系突变与Sotos综合征相关。 涉及NSD1和NUP98基因的易位在小儿急性髓性白血病中非常普遍，并且与预后不良相关。NUP98-NSD1融合和NSD1功能丧失突变导致全基因组蛋白甲基化变化进而导致基因表达改变。NSD1功能丧失的突变也已在头颈鳞状细胞癌和白血病中检测到。

NSD1 is a ligand-regulated nuclear transcription factor that is activated by steroid hormones. NSD1 has a unique role as a bifunctional cofactor that can both positively and negatively regulate transcription. Additionally, NSD1 recognizes histone lysines and contains histone methyltransferase activity with specificity for H3K36 and H4K20. H3K36 methylation is most commonly associated with activation of gene transcription, but may also affect other processes such as DNA repair or RNA splicing. Germline mutations of NSD1 are associated with Sotos syndrome, characterized by overgrowth, distinctive appearance, and developmental delay. Translocations involving NSD1 and the NUP98 gene are highly prevalent in pediatric acute myeloid leukemia and are associated with a poor prognosis. Loss-of-function NSD1 mutations have also been identified in head and neck squamous cell carcinomas and leukemias.

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