Gene Symbol | MDM2 |
Entrez Gene ID | 4193 |
Full Name | MDM2 proto-oncogene |
Synonyms | ACTFS,HDMX,hdm2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jun 2013]. |
Disorder MIM: | |
Disorder Html: | {Accelerated tumor formation, susceptibility to}, 614401 (3) |