🧬 基因注释:SLC25A15
📝 官方信息
官方名称:solute carrier family 25 member 15
功能摘要:This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009].
🎯 作为靶基因的剪接因子
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- RBFOX2 置信度: 2.0
- CPSF2 置信度: 1.0
- FUS 置信度: 1.0
- PRPF4 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
🏥 关联疾病
该基因暂无关联疾病记录