🧬 基因注释：KCNMA1
📝 官方信息
官方名称：potassium calcium-activated channel subfamily M alpha 1
功能摘要：This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022].
🎯 作为靶基因的剪接因子
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF2 置信度: 1.0
- CPSF3 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MBNL2 置信度: 1.0
- MSI1 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录