靶标:
GABRB3
产品别名:
DEE43; ECA5; EIEE43; GABRB3; gamma-aminobutyric acid type A receptor subunit beta3; gamma-aminobutyric acid type A receptor subunit beta3; gamma-aminobutyric acid receptor subunit beta-3; GABA-alpha receptor beta-2 subunit; GABAA receptor beta-3 subunit; gamma-aminobutyric acid (GABA) A receptor, beta 3; gamma-aminobutyric acid A receptor beta 3; gamma-aminobutyric acid type A receptor beta3 subunit; G氨基丁酸受体3;
背景信息:
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. And this gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. It 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.