DDX11
Homo sapiens
Gene Name: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11
Aliases: CHL1, CHLR1, KRG2
Chromosome No: 12
Chromosome Band: 12p11.21
Genetic Category: Functional-Rare single gene variant
Aliases: CHL1, CHLR1, KRG2
Chromosome No: 12
Chromosome Band: 12p11.21
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 5
Evidence score: 0
ASD Reports: 4
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 5
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Differential expression of the DDX11 gene has been shown to occur in some autistic individuals (Hu et al., 2006).
Molecular Function
The encoded protein has ATP-dependent DNA helicase activity.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Highly Cited
Expression of CHL1 and L1 by neurons and glia following sciatic nerve and dorsal root injury.
Recent Recommendation
Receptors and neurosecretory actions of endothelin in hypothalamic neurons.



