🧬 基因注释：EFEMP1
📝 官方信息
官方名称：EGF-like fibulin extracellular matrix protein 1
功能摘要：This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009].
🎯 作为靶基因的剪接因子
- ACIN1 置信度: 2.0
- CSTF2 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
- HNRNPL 置信度: 2.0
- HNRNPU 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- CPSF1 置信度: 1.0
- MSI1 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Rbm7 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录