MED27
Chr 9ARmediator complex subunit 27
MED27 encodes a component of the Mediator complex that functions as a coactivator bridge between gene-specific regulatory proteins and the RNA polymerase II transcription machinery for nearly all RNA polymerase II-dependent genes. Mutations cause autosomal recessive neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia. The gene shows low constraint against loss-of-function variants (pLI 0.00002), suggesting tolerance to heterozygous loss.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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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
MED27 · 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