这个基因编码一个核定位的E3泛素连接酶。编码蛋白可通过靶向肿瘤抑制蛋白(如p53)促进蛋白酶体降解形成肿瘤。这个基因本身是由p53转录调节的。这种基因座的过度表达或扩增可在多种不同的癌症中检测到。在2号染色体上有一个这个基因的假基因。选择性剪接导致大量转录变异,其中许多可能只在肿瘤细胞中表达。
This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells.

基因名:MDM2
别名:ACTFS,HDMX,hdm2
基因ID:4193
Chromosome:
(GRCh37)
12 Start: 69201956 End: 69239214 Strand: 1
信号通路: 细胞增殖  细胞周期  基因组不稳定 
靶向药: MK-8242  派姆单抗(帕博利珠单抗)  纳武单抗(纳武利尤单抗)  伊匹单抗 
化疗药: 顺铂 培美曲塞