Rabbit anti-Human GABRB3 Polyclonal Antibody

Uniprot Id

P28472

Target Species

Human

Target Name

GABRB3

Target Full Name

Gamma-aminobutyric acid receptor subunit beta-3

Target Function

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. 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. The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity. The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity. Functions also as histamine receptor and mediates cellular responses to histamine. Plays an important role in somatosensation and in the production of antinociception.

Target Involvement

Epilepsy, childhood absence 5 (ECA5); Epileptic encephalopathy, early infantile, 43 (EIEE43)

Target Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane.

Target Protein Families

Ligand-gated ion channel (TC 1.A.9) family, Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily, GABRB3 sub-subfamily

Target Synonyms

ECA5; GABA alpha receptor beta-2 subunit; GABA(A) receptor subunit beta-3; GABAA receptor beta 3 subunit; GABAA receptor subunit beta 3; GABR B3; Gabrb3; Gamma aminobutyric acid (GABA) A receptor beta 3; Gamma aminobutyric acid receptor subunit beta 3; Gamma-aminobutyric acid receptor subunit beta-3; GBRB3_HUMAN; MGC9051

Target Background

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.