🧬 基因注释:EMILIN1
📝 官方信息
官方名称:elastin microfibril interfacer 1
功能摘要:This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF4 综合评分: 0.212 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录