🧬 基因注释：SLC24A1
📝 官方信息
官方名称：solute carrier family 24 member 1
功能摘要：This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].
🎯 作为靶基因的剪接因子
- CPSF4 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPH1 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- FUS 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Srsf1 置信度: 1.0
- TIA1 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- fus 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录