MED30

Chr 8

mediator complex subunit 30

Also known as: MED30S, THRAP6, TRAP25

NCBI Gene: 90390 ENSG00000164758 UniProt: Q96HR3 OMIM: 610237

MED30 encodes a component of the Mediator complex, which serves as a bridge between gene-specific regulatory proteins and RNA polymerase II to facilitate transcription of nearly all protein-coding genes. Mutations cause autosomal recessive intellectual disability with seizures and spastic paraplegia, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), consistent with its essential role in transcriptional regulation.

OMIM ResearchSummary from RefSeq, UniProt

The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.67

LOEUF

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Mechanism