🧬 基因注释:MATN3
📝 官方信息
官方名称:matrilin 3
功能摘要:This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPA1 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
- KHSRP 置信度: 2.0
- PCBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf7 置信度: 1.0
- TIA1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录