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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
Ubiquitin-proteasome dependent degradation of GABAA1 in autism spectrum disorder.
ASD
Support
Integrating de novo and inherited variants in 42
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
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
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
ASD, ADHD, OCD, DD, ID, epilepsy/seizures
Highly Cited
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Epilepsy

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN624R001 
 missense_variant 
 c.1313A>G 
 p.Tyr438Cys 
 De novo 
  
 Simplex 
 GEN624R002 
 missense_variant 
 c.436C>A 
 p.Leu146Met 
 De novo 
  
  
 GEN624R003 
 stop_gained 
 c.94C>T 
 p.Gln32Ter 
 Unknown 
  
  
 GEN624R004 
 missense_variant 
 c.581T>A 
 p.Val194Asp 
 Unknown 
  
 Simplex 
 GEN624R005 
 splice_site_variant 
 c.-248+376G>T 
  
 Familial 
 Maternal 
 Multiplex 
 GEN624R006 
 missense_variant 
 c.1207G>C 
 p.Glu403Gln 
 De novo 
  
 Unknown 
 GEN624R007 
 missense_variant 
 c.890G>A 
 p.Ser297Asn 
 De novo 
  
  
 GEN624R008 
 missense_variant 
 c.934G>A 
 p.Ala312Thr 
 De novo 
  
  
 GEN624R009 
 missense_variant 
 c.973T>C 
 p.Phe325Leu 
 De novo 
  
 Simplex 
 GEN624R010 
 missense_variant 
 c.335G>A 
 p.Arg112Gln 
 De novo 
  
  
 GEN624R011a 
 intron_variant 
 c.-15-698_-15-689dup 
  
 Familial 
 Both parents 
  
 GEN624R012 
 missense_variant 
 c.519C>G 
 p.Phe173Leu 
 De novo 
  
 Simplex 
  et al.  
 GEN624R013 
 missense_variant 
  
 p.Ser25Asn 
 Familial 
 Paternal 
 Multiplex 
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
Duplication
 1
 
5
Duplication
 1
 
5
Deletion
 1
 
5
Deletion
 1
 
5
Duplication
 1
 
5
Deletion-Duplication
 7
 

No Animal Model Data Available





Download GABRA1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
NRXN1 neurexin 1 9378 Q9ULB1 Surface plasmon resonance (SPR); IP/WB
Zhang C , et al. 2010
ARHGAP32 Rho GTPase activating protein 32 330914 Q811P8 IP/WB; Rate-zonal centrifugation
Nakamura T , et al. 2016
Grm5 glutamate receptor, metabotropic 5 108071 Q3UVX5 IP/WB
Nakamura Y , et al. 2016
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 529593 A5D7U6 IP/WB
Pollard S , et al. 1991

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