Biochem/physiol Actions

GABRB3 is a member of the ligand-gated ionic channel family. GABRB3 is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism.This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described.

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Immunogen

Synthetic peptide directed towards the middle region of human GABRB3

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Sequence

Synthetic peptide located within the following region: ESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGA