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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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GABRB3
gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRB3 is 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.
| Gene Name: | gamma-aminobutyric acid (GABA) A receptor, beta 3 |
| Family/Subfamily: | Ion Channel , GABA A receptor |
| Synonyms: | GABRB3, Cleft palate 1, Cp1, GABAA receptor beta-3 subunit, GABA(A) receptor, beta 3, ECA5, GABA A receptor beta 3 |
| Target Sequences: | NM_000814 NP_000805.1 P28472 |
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