GABRB3 Antibody – Mouse Monoclonal

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

GABRB3: 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. Defects in GABRB3 are associated with chronic insomnia, a condition of inability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition. Defects in GABRB3 are the cause of childhood absence epilepsy type 5 (ECA5). ECA5 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, chloride; Transporter; Membrane protein, multi-pass; Channel, ligand-gated; Membrane protein, integral; Transporter, ion channel

Chromosomal Location of Human Ortholog: 15q12

Cellular Component: cell junction; integral to plasma membrane; plasma membrane; postsynaptic membrane

Molecular Function: extracellular ligand-gated ion channel activity; GABA-A receptor activity; GABA-gated chloride ion channel activity

Biological Process: inner ear receptor cell development; negative regulation of neuron apoptosis; palate development; regulation of inhibitory postsynaptic membrane potential; sensory perception of sound; signal transduction; synaptic transmission; transmembrane transport; transport

Disease: Epilepsy, Childhood Absence, Susceptibility To, 5