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LongQT Type 8 Alongside Timothy Syndrome, high-penetrance missense CACNA1C variants have also been noted in patients with LongQT Type 8, predominantly with no further extra-cardiac symptoms presenting. [23] LongQT Typ...
Jul 17, 2025 · Complete information for CACNA1C gene (Protein Coding), Calcium Voltage-Gated Channel Subunit Alpha1 C, including: function, proteins, disorders, pathways, orthologs, and expression.
The CACNA1C gene provides instructions for making one of several calcium channels. Calcium channels, which transport positively charged calcium atoms (calcium ions) into cells, play a key role in a cell's ability to g...
CACNA1C: The CACNA1C gene, located on chromosome 12p13.33, encodes the alpha-1C subunit which is widely expressed in various tissues, including the brain, heart, and smooth muscle.
功能概要 该基因编码电压依赖性钙通道的 alpha-1 亚基。 钙通道在膜极化时介导钙离子流入细胞。 α-1 亚基由 24 个跨膜片段组成，形成离子进入细胞的孔。 钙通道由 alpha-1、alpha-2/delta、beta 和 gamma 亚基复合体组成，比例为 1:1:1:1。
Aug 16, 2018 · Summary: Minimal evidence exists linking CACNA1C as a pharmacogenomic marker, and CACNA1C shows little clinical utility as a disease marker. While there is an association between CACNA1C and bipolar dis...
CACNA1C基因编码钙离子通道蛋白Cav1.2的α1亚基，属于电压门控钙通道（VGCC）基因家族中的L型钙通道亚家族。 这类通道的特点是依赖膜电位变化激活，允许钙离子进入细胞，在电兴奋性组织（如心脏、大脑、平滑肌）中起关键作用。
研究发现编码CaV1.2的CACNA1C基因功能获得型与丧失型突变常与包括长QT综合征、Brugada综合征、短QT综合征在内的遗传性心律失常综合征有关。 本文将对近年来出现的CACNA1C突变及其导致的各种心律失常进行综述。
Sep 27, 2025 · Title: Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder. Structural basis for human Cav1.2 inhibition by multiple drugs and the neurotoxin calciseptine.
为探究 CACNA1C 基因突变与疾病的关系，研究人员对一名携带 CACNA1C基因新发杂合错义变异（c.1973T>C;L658P）的患儿展开研究。
