MED13L
Chr 12ADmediator complex subunit 13L
Also known as: MRFACD, PROSIT240, THRAP2, TRAP240L
The MED13L protein is a subunit of the Mediator complex that functions as a transcriptional coactivator for RNA polymerase II-transcribed genes and is involved in early heart and brain development. Mutations cause autosomal dominant intellectual disability with distinctive facial features and variable cardiac defects including transposition of the great arteries through a loss-of-function mechanism. The gene is highly intolerant to loss-of-function variants, consistent with its role in neurodevelopment.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MED13L · 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
External Resources
Links to major genomics databases and tools