🧬 基因注释：SCN1B
📝 官方信息
官方名称：sodium voltage-gated channel beta subunit 1
功能摘要：Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.362 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Nova2 综合评分: 0.298 · 证据 1 条
- MBNL2 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Tardbp 综合评分: 0.248 · 证据 1 条
- PRPF4 综合评分: 0.212 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- Rbmx 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