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
- HNRNPC 综合评分: 0.494 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
- CPSF3 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- ELAVL3 综合评分: 0.100 · 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