🧬 基因注释：SNTG1
📝 官方信息
官方名称：syntrophin gamma 1
功能摘要：The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- HNRNPC 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF3 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MBNL2 置信度: 1.0
- Mbnl2 置信度: 1.0
- Nova2 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录