MED8
Chr 1mediator complex subunit 8
Also known as: ARC32
The MED8 protein is a component of the Mediator complex that facilitates transcription by serving as a bridge between gene-specific regulatory proteins and RNA polymerase II, and may also function in protein ubiquitination and degradation. Mutations cause autosomal recessive developmental delays, intellectual disability, and distinctive facial features, with this gene being highly intolerant to loss-of-function variants (pLI near 1.0). The condition typically presents in early childhood with neurodevelopmental abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MED8 · 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