Developmental Brain Disorder Gene Database
LoF Variant Gene
HGNC:2745 (protein-coding gene)
DEAD-box helicase 3 X-linked
- Unique Cases:
- ID, ASD, EP, ADHD
- Last Updated:
- May 1, 2021
- DBD Genes Classification
- DDX3X is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Multifunctional ATP-dependent RNA helicase (PubMed:17357160, PubMed:21589879, PubMed:31575075). The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity (PubMed:29222110). In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs (PubMed:17357160, PubMed:21589879). Binds RNA G- quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA (PubMed:30256975). Involve... (Source: Uniprot)
- Previous symbols
- Alias symbols
- DBX, HLP2, DDX14, CAP-Rf
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder
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