GABRA1 : gamma-aminobutyric acid type A receptor subunit alpha1

Description

The GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) is a protein-coding gene located on chromosome 5.

The GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABAA receptor protein. GABAA receptors are made up of different combinations of five protein subunits, each produced from a different gene. (Nineteen different genes provide instructions for GABAA receptor subunits.) These subunits form a hole (pore) in the cell membrane through which negatively charged chlorine atoms (chloride ions) can flow.A chemical that transmits signals in the brain (a neurotransmitter) called gamma-amino butyric acid (GABA) attaches to GABAA receptors. Once GABA attaches, the pore formed by the subunits opens, and chloride ions flow across the cell membrane. After infancy, chloride ions flow into the cell through the open pore, which creates an environment in the cell that blocks (inhibits) signaling between neurons. The primary role of GABA in children and adults is to prevent the brain from being overloaded with too many signals. In contrast, in newborns and infants, chloride ions flow out of the cell when the pore is opened, creating an environment that allows signaling between neurons.

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). {ECO:0000250|UniProtKB:P62812, ECO:0000250|UniProtKB:P62813, ECO:0000269|PubMed:23909897, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:29950725}

GABRA1 is also known as DEE19, ECA4, EIEE19, EJM, EJM5.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing