CACNA1E 基因突变与药物因子介绍
电压依赖性钙通道是由α-1、α-2、β和δ亚基组成的多亚单位复合物，其比例为1:1:1。这些通道介导钙离子进入可兴奋细胞，并参与多种钙依赖过程，包括肌肉收缩、激素或神经递质释放、基因表达、细胞运动、细胞分裂和细胞死亡。该基因编码r型钙通道的α1e亚单位，该亚单位属于“高压激活”组，可能参与对信息处理重要的神经元放电模式的调节。另外，编码不同亚型的剪接转录变体已经被描述为该基因[由RefSeq提供，2011年4月]
Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
