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MRXSSB
Chr XXLDXLRDEAD-box helicase 3 X-linked
Also known as: CAP-Rf, DBX, DDX14, DDX3, HLP2, MRX102, MRXSSB
This gene encodes DDX3X, an ATP-dependent RNA helicase that regulates transcription, pre-mRNA splicing, mRNA export, and translation in both nuclear and cytoplasmic compartments. Mutations cause intellectual developmental disorder, X-linked syndromic, Snijders Blok type, which presents with developmental delay, intellectual disability, and various syndromic features. The condition follows X-linked inheritance patterns and can manifest in both males and females.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRXSSB?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MRXSSB · 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 →No open access results found
External Resources
Links to major genomics databases and tools