Aliases for MED20 Gene
External Ids for MED20 Gene
Previous HGNC Symbols for MED20 Gene
Previous GeneCards Identifiers for MED20 Gene
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
GeneCards Summary for MED20 Gene
MED20 (Mediator Complex Subunit 20) is a Protein Coding gene. Diseases associated with MED20 include Waardenburg Syndrome, Type 3 and Waardenburg Syndrome, Type 1. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity.
UniProtKB/Swiss-Prot Summary for MED20 Gene
Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.