CACNA1D 基因突变与药物因子介绍
电压依赖性钙通道介导钙离子进入兴奋性细胞，并参与多种钙依赖性过程，包括肌肉收缩、激素或神经递质释放和基因表达。钙通道是由α-1、β、α-2/δ和γ亚单位组成的多亚单位复合物。通道活性由孔形成α-1亚基定向，而其它活性充当调节该活性的辅助亚基。钙通道类型的独特特性主要与多种α-1亚型的表达有关，即α-1a、b、c、d、e和s。该基因编码α-1d亚基。已经发现了一些编码不同亚型的转录变体。[由RefSeq提供，2012年12月]
Voltage-dependent calcium 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
