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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GABRB3-20-RE | 20 (40 μL) | 200 μL |  |
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| GABRB3-20-OR | 20 (40 μL) | 200 μL |  |
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| GABRB3-20-GO | 20 (40 μL) | 200 μL |  |
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| GABRB3-20-GR | 20 (40 μL) | 200 μL |  |
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| GABRB3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : GABRB3
Gene Name : Gamma-aminobutyric acid type A receptor beta3 subunit
Chromosome : CHR 15: 267,737,87-265,435,45
Locus : 15q12
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