人 GLRA1 (NM_000171) cDNA克隆

Accession: NM_000171
基因名称: GLRA1
基因别名: STHE; HKPX1
基因描述: Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1350 (查看编码区序列)
翻译后氨基酸长度: 449 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of the last exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
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G145248 人 GLRA1 (NM_000171) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]