MEX3C
Chr 18mex-3 RNA binding family member C
Also known as: BM-013, MEX-3C, RKHD2, RNF194
The MEX3C protein is an E3 ubiquitin ligase that binds mRNA through its K homology domains and regulates mRNA stability and translation, including post-transcriptional regulation of HLA-A allotypes. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, following an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function mutations (pLI = 0.86, LOEUF = 0.41), consistent with its essential role in cellular RNA regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
MEX3C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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