人 COLQ (NM_005677) cDNA克隆

Accession: NM_005677
基因名称: COLQ
基因别名: EAD
基因描述: Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.
种属: Human
CDS区长度: 1368 (查看编码区序列)
翻译后氨基酸长度: 455 (查看氨基酸序列)
Transcript Variant: This variant (I) encodes the longest protein.
产品编号 产品名称 载体 规格 价格
G166116 人 COLQ (NM_005677) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]