🧬 基因注释：NOTCH3
📝 官方信息
官方名称：notch receptor 3
功能摘要：This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 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
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- CPSF2 置信度: 1.0
- FUS 置信度: 1.0
- Larp7 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Rbmx 置信度: 1.0
- Srsf3 置信度: 1.0
- TIA1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录