MYCN是致病基因,编码蛋白是一种MYC家族转录因子,与常见的转录因子c-MYC具有高度同源性(由MYC基因编码)。MYCN已被证明作为转录激活因子和阻遏物起作用,调节参与细胞周期、增殖、凋亡、代谢的基因的表达及其他过程。MYCN基因被组织成N-末端转录激活结构域和C-末端基本的螺旋-环-螺旋-亮氨酸拉链DNA结合结构域。与普遍表达的c-MYC不同,n-MYC的表达在时间上局限于胚胎发育并且在空间上限于神经系统,肾,肺和脾的细胞。MYCN的扩增主要与神经起源的癌症(例如神经母细胞瘤、髓母细胞瘤、胶质母细胞瘤)有关,但在其他实体肿瘤中包括前列腺癌、乳腺癌和小细胞肺癌中已被观察到。
MYCN gene encodes a MYC-family transcription factor, with high homology to the commonly amplified transcription factor c-MYC (encoded by the gene MYC). MYCN has been shown to function both as a transcriptional activator and repressor, regulating the expression of genes involved in the cell cycle, proliferation, apoptosis, metabolism and regulation of the tumor microenvironment among other processes. The MYCN gene is organized into an N-terminus transcriptional activation domain and a C-terminus basic helix-loop-helix leucine zipper DNA-binding domain. Unlike c-MYC, which is ubiquitously expressed, expression of n-MYC is temporally restricted to embryonic development and spatially restricted to cells of the nervous system, kidney, lung and spleen. Amplification of MYCN is predominantly associated with cancers of neural origin (e.g. neuroblastoma, medulloblastoma, glioblastoma), but has been observed in other solid tumors including prostate, breast and small cell lung cancers.
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