🧬 基因注释：GALNT17
📝 官方信息
官方名称：polypeptide N-acetylgalactosaminyltransferase 17
功能摘要：This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013].
🎯 作为靶基因的剪接因子
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- NOVA1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MBNL2 置信度: 1.0
- MSI1 置信度: 1.0
- Mbnl2 置信度: 1.0
- Nova2 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Srsf2 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录