DHX33
Chr 17DEAH-box helicase 33
Also known as: DDX33
This gene encodes DHX33, a DEAD-box RNA helicase that stimulates ribosomal RNA transcription, promotes ribosome assembly during translation initiation, and functions as a cytoplasmic double-stranded RNA sensor for innate immune signaling. Mutations cause autosomal recessive intellectual developmental disorder with seizures and dysmorphic facies, typically presenting in early childhood. The gene shows low constraint against loss-of-function variants (pLI near 0), consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DHX33 · 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