🧬 基因注释:CP
📝 官方信息
官方名称:ceruloplasmin
功能摘要:The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012].
🎯 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
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- CPSF1 置信度: 1.0
- FUS 置信度: 1.0
- MATR3 置信度: 1.0
- MBNL2 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- SAFB 置信度: 1.0
- SF3A3 置信度: 1.0
- SMNDC1 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录