GABRA1
Homo sapiens
Gene Name: Gamma-aminobutyric acid (GABA) A receptor, alpha 1
Aliases: ECA4, EIEE19, EJM, EJM5
Chromosome No: 5
Chromosome Band: 5q34
Genetic Category: Functional-Rare single gene variant-Rare single gene variant/Functional
Aliases: ECA4, EIEE19, EJM, EJM5
Chromosome No: 5
Chromosome Band: 5q34
Genetic Category: Functional-Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 18
Recent Reports: 1
Annotated variants: 19
Associated CNVs: 6
Evidence score: 3
ASD Reports: 18
Recent Reports: 1
Annotated variants: 19
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Significant reduction in GABA(A)-alpha 1, the protein encoded by the GABRA1 gene, has been observed in post-mortem brain tissue from ASD subjects in two separate studies (Fatemi et al., 2009; Crider et al., 2014).
Molecular Function
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Variants in this gene are associated with epilepsy, childhood absence 4 (ECA4) [MIM:611136] and juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
GABA(A) receptor downregulation in brains of subjects with autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
ID
Marfanoid habitus
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
ASD, DD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD, ID, epilepsy/seizures
Autistic behavior
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half
ASD
ID, learning disability
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Support
Ubiquitin-proteasome dependent degradation of GABAA1 in autism spectrum disorder.
ASD
Support
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
Epilepsy/seizures
Highly Cited
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Epilepsy
Recent Recommendation
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
ASD
