DDX53
Homo sapiens
Gene Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
Aliases: CAGE, CT26
Chromosome No: X
Chromosome Band: Xp22.11
Genetic Category: Rare Single Gene variant
Aliases: CAGE, CT26
Chromosome No: X
Chromosome Band: Xp22.11
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 12
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Rare deletions involving the DDX53 gene have been identified in individuals with ASD (Pinto et al., 2010).
Molecular Function
This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
