GABRA4

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]

Description

Gamma-aminobutyric acid type A receptor subunit alpha4

Tissue specificity

Group enriched (brain, heart muscle)

Predicted location

Membrane

Protein family

FDA approved drug targets
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

4 (46918900 - 46993581)

Ensembl ID

ENSG00000109158  (ver. 103.38)

Orthologs

Mouse Gabra4: ENSMUSG00000029211

UniProt

P48169

neXtProt

NX_P48169

Human splice variants
Mouse splice variants

Protein structure