🧬 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].

• RBFOX2 综合评分: 0.471 · 证据 2 条
• HNRNPC 综合评分: 0.448 · 证据 2 条
• MBNL1 综合评分: 0.407 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• RBM25 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• NOVA1 综合评分: 0.298 · 证据 2 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• RBM22 综合评分: 0.250 · 证据 2 条
• RBM39 综合评分: 0.250 · 证据 2 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• Mbnl2 综合评分: 0.200 · 证据 1 条
• Nova2 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条

该基因暂无关联疾病记录