Gene: GABRA4

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p12

Description of this Gene: gamma-aminobutyric acid type A receptor subunit alpha4

Type of Gene: protein-coding

rs2055942 in GABRA4 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 23937595 2013 A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.

rs17641411 in GABRA4 gene and Mental deterioration PMID 28078323 2017 Genetic architecture of age-related cognitive decline in African Americans.

rs1160093 in GABRA4 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.