🧬 基因注释：STXBP5L
📝 官方信息
官方名称：syntaxin binding protein 5L
功能摘要：The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- FUBP1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MBNL2 置信度: 1.0
- NXF1 置信度: 1.0
- Nova2 置信度: 1.0
- Ptbp2 置信度: 1.0
- QKI 置信度: 1.0
- Rbmx 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录