人 GLRB (NM_001166061) cDNA克隆

Accession: NM_001166061
基因名称: GLRB
基因别名: HKPX2
基因描述: Homo sapiens glycine receptor, beta (GLRB), transcript variant 3, mRNA.
种属: Human
CDS区长度: 912 (查看编码区序列)
翻译后氨基酸长度: 303 (查看氨基酸序列)
Transcript Variant: This variant (3, also known as GlyR beta delta8) lacks an alternate internal exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (B) has a distinct C-terminus and is shorter than isoform A.
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G145267 人 GLRB (NM_001166061) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]