🧬 基因注释：SLC4A11
📝 官方信息
官方名称：solute carrier family 4 member 11
功能摘要：This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf7 置信度: 1.0
- TIA1 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- YBX1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录