MDM4 Chromosome 1

MDM4 regulator of p53
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers RANBP2-type"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000198625
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS41299595 Health Risk Conflicting classifications of pathogenicity
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