🧬 基因注释：EOGT
📝 官方信息
官方名称：EGF domain specific O-linked N-acetylglucosamine transferase
功能摘要：This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPL 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- FUS 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
- UPF1 置信度: 1.0
- YBX1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录