MED21

Chr 12

mediator complex subunit 21

Also known as: SRB7, SURB7, hSrb7

NCBI Gene: 9412 ENSG00000152944 UniProt: Q13503

The encoded protein is a component of the Mediator complex that functions as a coactivator in the regulated transcription of nearly all RNA polymerase II-dependent genes, serving as a bridge between gene-specific regulatory proteins and the basal transcription machinery. Mutations cause autosomal recessive intellectual disability with distinctive facial features and variable developmental delays. The gene shows tolerance to loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.12

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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