🧬 基因注释：HEPH
📝 官方信息
官方名称：hephaestin
功能摘要：This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 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
- RBM20 置信度: 2.0
- RBM22 置信度: 2.0
- AQR 置信度: 1.0
- MATR3 置信度: 1.0
- PRPF8 置信度: 1.0
- SAFB 置信度: 1.0
- SAFB2 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf4 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录