🧬 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
🏥 关联疾病
该基因暂无关联疾病记录