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DDX3X - DEAD-box helicase 3 X-linked
- Synonym(s) : CAP-Rf, DBX, DDX14, Helicase-like protein 2, HLP2
- Previous symbols and names : DDX3, DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3
- Type : gene with protein product
- Chromosomal location : Xp11.4
- OMIM: 300160
- HGNC: 2745
- UniProtKB: O00571
- Genatlas: DDX3X
- GenCC: DDX3X
- Ensembl: ENSG00000215301
- IUPHAR-DB: -
- Reactome: O00571
- LOVD: DDX3X
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Toriello-Carey syndrome
ORPHA:3338 
- Disease-causing germline mutation(s) (loss of function) in X-linked intellectual disability-hypotonia-movement disorder syndrome
ORPHA:457260 - Part of a fusion gene in Precursor T-cell acute lymphoblastic leukemia
ORPHA:99861
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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