🧬 基因注释：C8B
📝 官方信息
官方名称：complement C8 beta chain
功能摘要：This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013].
🎯 作为靶基因的剪接因子
- Srsf7 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录