MED30
Chr 8mediator complex subunit 30
Also known as: MED30S, THRAP6, TRAP25
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MED30 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools