产品介绍 基因名: COLQ 产品别名: CMS5; EAD; COLQ; collagen like tail subunit of asymmetric acetylcholinesterase; collagen like tail subunit of asymmetric acetylcholinesterase; acetylcholinesterase collagenic tail peptide; AChE Q subunit; acetylcholinesterase-associated collagen; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; collagenic tail of endplate acetylcholinesterase; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase; 背景信息: 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] 标签:His-tag |
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