🧬 基因注释：ACTB
📝 官方信息
官方名称：actin beta
功能摘要：This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.651 · 证据 2 条
- Tardbp 综合评分: 0.538 · 证据 1 条
- FUS 综合评分: 0.522 · 证据 1 条
- fus 综合评分: 0.522 · 证据 1 条
- PTBP1 综合评分: 0.474 · 证据 2 条
- TIA1 综合评分: 0.464 · 证据 1 条
- MBNL2 综合评分: 0.429 · 证据 1 条
- Srsf3 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- HNRNPM 综合评分: 0.412 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- SRSF2 综合评分: 0.398 · 证据 1 条
- ELAVL3 综合评分: 0.380 · 证据 1 条
- Nova2 综合评分: 0.374 · 证据 1 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- PCBP2 综合评分: 0.360 · 证据 1 条
- CELF2 综合评分: 0.356 · 证据 2 条
- U2af1 综合评分: 0.356 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录