GABRA4 gene

gamma-aminobutyric acid type A receptor alpha4 subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12

Molecular Location: base pairs 46,918,900 to 46,994,407 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12