MED4

Chr 13

mediator complex subunit 4

ENSG00000136146 UniProt: Q9NPJ6 OMIM: 605718

The protein is a component of the Mediator complex that functions as a coactivator and scaffold for RNA polymerase II transcription, facilitating communication between gene-specific regulatory proteins and the basal transcription machinery. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and behavioral abnormalities, following an autosomal dominant inheritance pattern. This gene is not highly constrained against loss-of-function variants, suggesting the associated phenotypes may arise through other molecular mechanisms.

OMIM ResearchSummary from RefSeq, UniProt

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

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.79

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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