Aliases for GABRA4 Gene
External Ids for GABRA4 Gene
Previous GeneCards Identifiers for GABRA4 Gene
Gamma-aminobutyric acid (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. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
GeneCards Summary for GABRA4 Gene
GABRA4 (Gamma-Aminobutyric Acid Type A Receptor Alpha4 Subunit) is a Protein Coding gene. Diseases associated with GABRA4 include status epilepticus and schizophrenia. Among its related pathways are Circadian entrainment and Peptide ligand-binding receptors. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA1.
UniProtKB/Swiss-Prot for GABRA4 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 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.