人 GABRB3 (NM_000814) cDNA克隆

Accession: NM_000814
基因名称: GABRB3
基因别名: ECA5
基因描述: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1422 (查看编码区序列)
翻译后氨基酸长度: 473 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes isoform 1, which is of the same length as isoform 2, but has a distinct N-terminus.
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G111419 人 GABRB3 (NM_000814) cDNA克隆 pDONR223 2ug质粒 点击询价

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]