🧬 基因注释：SPEG
📝 官方信息
官方名称：striated muscle enriched protein kinase
功能摘要：This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- AQR 置信度: 1.0
- MSI1 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- Nova2 置信度: 1.0
- PRPF8 置信度: 1.0
- QKI 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录