Recombinant Human Gamma-aminobutyric acid receptor subunit beta-1 (GABRB1), Truncated

Uniprot Id

P18505

Target Species

Human

Target Name

GABRB1

Target Full Name

Gamma-aminobutyric acid receptor subunit beta-1

Target Function

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Target Involvement

Epileptic encephalopathy, early infantile, 45 (EIEE45)

Target Subcellular Location

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

Target Protein Families

Ligand-gated ion channel (TC 1.A.9) family, Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily, GABRB1 sub-subfamily

Target Synonyms

AW061132; B230208N19Rik; GABA(A) receptor beta 1; GABA(A) receptor subunit beta-1; GABA-A receptor; beta-1 polypeptide; Gabrb-1; GABRB1; Gamma aminobutyric acid (GABA) A receptor beta 1; Gamma Aminobutyric Acid A Receptor Beta 1; Gamma Aminobutyric Acid Receptor ; beta-1; Gamma-aminobutyric acid (GABA) A receptor; subunit beta 1; Gamma-aminobutyric acid receptor subunit beta-1; GARB1; GBRB1_HUMAN

Target Background

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.