🧬 基因注释：SCN5A
📝 官方信息
官方名称：sodium voltage-gated channel alpha subunit 5
功能摘要：The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022].
🎯 作为靶基因的剪接因子
- RBM19 置信度: 3.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPD 置信度: 2.0
- MBNL1 置信度: 2.0
- NOVA1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM11 置信度: 2.0
- RBM15 置信度: 2.0
- RBM16 置信度: 2.0
- RBM17 置信度: 2.0
- RBM18 置信度: 2.0
- RBM20 置信度: 2.0
- RBM22 置信度: 2.0
- RBM24 置信度: 2.0
- RBM25 置信度: 2.0
- RBM28 置信度: 2.0
- RBM34 置信度: 2.0
- RBM38 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录