C1QA基因突变与药物因子介绍
该基因编码血清补体亚组分C1q的A链多肽，它与C1r和C1s结合产生血清补体系统的第一组分C1q缺乏与红斑狼疮和肾小球肾炎有关c1q由18条多肽链组成，包括6条a链、6条b链和6条c链。每条链包含一个N端胶原样区域和一个C端C1q球状结构域交替剪接导致多个转录变体。[由RefSeq提供，2016年11月]
This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
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