GABRA5 Chromosome 15
Gamma-aminobutyric acid type A receptor subunit alpha5
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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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
15q12
Ensembl
ENSG00000186297
Associated Conditions (2)
Developmental and epileptic encephalopathy
79
Key Variants
RS2140588007
Likely pathogenic
Health Risk
RS1595438243
Pathogenic
Developmental and epileptic encephalopathy, 79, Developmental and epileptic encephalopathy
Health Risk
RS1595438268
Pathogenic
Developmental and epileptic encephalopathy, 79, Developmental and epileptic encephalopathy
Health Risk
RS1595441329
Pathogenic
Developmental and epileptic encephalopathy, 79, Developmental and epileptic encephalopathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140588007 | Health Risk | Likely pathogenic | — |
| RS1595438243 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 79, Developmental and epileptic encephalopathy |
| RS1595438268 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 79, Developmental and epileptic encephalopathy |
| RS1595441329 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 79, Developmental and epileptic encephalopathy |