🧬 基因注释：PRIMPOL
📝 官方信息
官方名称：primase and DNA directed polymerase
功能摘要：This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
🎯 作为靶基因的剪接因子
- CPSF4 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- KHSRP 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
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- FUS 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录