🧬 基因注释：GYPC
📝 官方信息
官方名称：glycophorin C (Gerbich blood group)
功能摘要：Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- DDX5 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- PABPC4 置信度: 2.0
- PCBP1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- MATR3 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- SAFB 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录