Aliases for GABRA5 Gene
- Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5 2 3 5
- Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 5 2 3
- Gamma-Aminobutyric Acid Receptor Subunit Alpha-5 3 4
- GABA(A) Receptor Subunit Alpha-5 3 4
- Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit 3
- GABA(A) Receptor, Alpha 5 2
- EIEE79 3
- GABRA5 5
- DEE79 3
External Ids for GABRA5 Gene
Previous GeneCards Identifiers for GABRA5 Gene
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]
GeneCards Summary for GABRA5 Gene
GABRA5 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5) is a Protein Coding gene. Diseases associated with GABRA5 include Developmental And Epileptic Encephalopathy 79 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are GABA receptor activation and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is GABRA2.
UniProtKB/Swiss-Prot Summary for GABRA5 Gene
Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671).
GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.