MDM2

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.

别名

ACTFS,HDMX,hdm2

基因id

Chromosome:12 Start: 69201956 End: 69239214 Strand: 1
更多>>

相关基因检测

genes