人 GLRA1 (NM_001146040) cDNA克隆

Accession: NM_001146040
基因名称: GLRA1
基因别名: STHE; HKPX1
基因描述: Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1374 (查看编码区序列)
翻译后氨基酸长度: 457 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
产品编号 产品名称 载体 规格 价格
G145249 人 GLRA1 (NM_001146040) 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]