Aliases for GABRA5 Gene
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 (GABA) A Receptor, Alpha 5) is a Protein Coding gene. Diseases associated with GABRA5 include prader-willi syndrome and angelman syndrome. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include receptor activity and chloride channel activity. An important paralog of this gene is GABRA4.
UniProtKB/Swiss-Prot for GABRA5 Gene
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.