ADARB1
Homo sapiens
Gene Name: Adenosine deaminase, RNA-specific, B1
Aliases: ADAR2, DRABA2, DRADA2, RED1
Chromosome No: 21
Chromosome Band: 21q22.3
Genetic Category: Functional-Rare single gene variant-Syndromic
Aliases: ADAR2, DRABA2, DRADA2, RED1
Chromosome No: 21
Chromosome Band: 21q22.3
Genetic Category: Functional-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A dysfunctional isoform of ADARB1, which results from alternative skipping of the exon harboring two double-stranded RNA-binding domains, was found more frequently in postmortem cerebella from individuals with autism (Eran et al., 2012). This suggests that A-to-I editing of synaptic genes by ADARB1 may be informative for assessing the epigenetic risk for ASD.
Molecular Function
Editing of the messenger RNAs for glutamate receptor (GluR) subunits by site-selective adenosine deamination. Edits both the GluR-B Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
Neurodevelopmental disorder with hypotonia, microc
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Neurodevelopmental disorder with hypotonia, microc
DD, ID, epilepsy/seizures
