GABRA3 Chromosome X
Gamma-aminobutyric acid type A receptor subunit alpha3
Upload your DNA to see your personal genotypes for variants in GABRA3.
What This Gene Does
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Gamma-aminobutyric acid type A receptor subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000011677
Associated Conditions (4)
Epilepsy
X-linked 2
with or without impaired intellectual development and dysmorphic features
Inborn genetic diseases
Key Variants
RS2521596611
Likely pathogenic
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
Health Risk
RS1193521522
Pathogenic
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
Health Risk
RS1936960785
Pathogenic
Inborn genetic diseases, Epilepsy, X-linked 2
Health Risk
RS2521621423
Pathogenic
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2521596611 | Health Risk | Likely pathogenic | Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features |
| RS1193521522 | Health Risk | Pathogenic | Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features |
| RS1936960785 | Health Risk | Pathogenic | Inborn genetic diseases, Epilepsy, X-linked 2 |
| RS2521621423 | Health Risk | Pathogenic | Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features |