🧬 基因注释：SPTA1
📝 官方信息
官方名称：spectrin alpha, erythrocytic 1
功能摘要：This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017].
🎯 作为靶基因的剪接因子
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM22 综合评分: 0.250 · 证据 2 条
- U2af2 综合评分: 0.224 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- DDX5 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- SAFB 综合评分: 0.100 · 证据 1 条
- Tra2a 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录