GABRB3 antibody, eca5 antibody, LOC100230475 antibody, ECA5 antibody, A230092K12Rik antibody, AW049585 antibody, Cp1 antibody, Gabrb-3 antibody, beta3 antibody, gamma-aminobutyric acid type A receptor beta3 subunit antibody, gamma-aminobutyric acid (GABA) A receptor, beta 3 antibody, gamma-aminobutyric acid type A receptor beta 3 subunit antibody, gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 antibody, GABRB3 antibody, gabrb3 antibody, Gabrb3 antibody
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. Alias Symbols: GABRB3 Protein Interaction Partner: MEOX2, UBC, UBQLN1, ARFGEF2, PPP2CA, AKAP5, GNB2L1, PRKCA, PRKACA, Protein Size: 473