🧬 基因注释：KCNJ6
📝 官方信息
官方名称：potassium inwardly rectifying channel subfamily J member 6
功能摘要：This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 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
- NOVA1 置信度: 2.0
- PABPC4 置信度: 2.0
- PTBP1 置信度: 2.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- MATR3 置信度: 1.0
- MBNL2 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- Nova2 置信度: 1.0
- PRPF8 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录