🧬 基因注释：SLC7A9
📝 官方信息
官方名称：solute carrier family 7 member 9
功能摘要：This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011].
🎯 作为靶基因的剪接因子
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 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
- HNRNPK 置信度: 2.0
- HNRNPU 置信度: 2.0
- MBNL1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- CPSF1 置信度: 1.0
- FUS 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- UPF1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录