🧬 基因注释：CACNA1C
官方名称：calcium voltage-gated channel subunit alpha1 C
功能摘要：This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012].
- RBM19 置信度: 3.0
- CPSF4 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- MBNL3 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBFOX3 置信度: 2.0
- RBM10 置信度: 2.0
- RBM11 置信度: 2.0
- RBM15 置信度: 2.0
- RBM16 置信度: 2.0
- RBM17 置信度: 2.0
- RBM18 置信度: 2.0
- RBM20 置信度: 2.0
该基因暂无关联疾病记录