MED17
Chr 11ARmediator complex subunit 17
Also known as: CRSP6, CRSP77, DRIP80, SRB4, TRAP80
MED17 encodes a component of the Mediator complex, which functions as a coactivator for RNA polymerase II transcription by bridging gene-specific regulatory proteins to the basal transcription machinery. Mutations cause autosomal recessive microcephaly with postnatal progressive features including seizures and brain atrophy. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.
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
MED17 · 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