🧬 基因注释：PGAP2
📝 官方信息
官方名称：post-GPI attachment to proteins 2
功能摘要：The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017].
🎯 作为靶基因的剪接因子
- CPSF6 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
- HNRNPH1 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF3 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MSI1 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录