DAB1
Homo sapiens
Gene Name: disabled homolog 1 (Drosophila)
Aliases: RP6-239D12.2
Chromosome No: 1
Chromosome Band: 1p32.2-p32.1
Genetic Category: Functional-Rare single gene variant
Aliases: RP6-239D12.2
Chromosome No: 1
Chromosome Band: 1p32.2-p32.1
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
ASD Reports: 7
Recent Reports: 2
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Significant reduction of Dab-1 mRNA was seen in superior frontal and cerebellar areas of autistic brains compared to control brains (Fatemi et al., 2005).
Molecular Function
DAB1 serves as an intracellular adaptor for reelin signaling pathway
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Mice with Dab1 or Vldlr insufficiency exhibit abnormal neonatal vocalization patterns.
Highly Cited
Neuronal position in the developing brain is regulated by mouse disabled-1.
Highly Cited
Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation.
Recent Recommendation
Relative importance of the tyrosine phosphorylation sites of Disabled-1 to the transmission of Reelin signaling.
Recent Recommendation
Differential interaction of the Pafah1b alpha subunits with the Reelin transducer Dab1.
