Gene Symbol | GABRB3 |
Entrez Gene ID | 2562 |
Full Name | gamma-aminobutyric acid type A receptor beta3 subunit |
Synonyms | ECA5,EIEE43 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Epileptic encephalopathy, early infantile, 43, 617113 (3) |