【J9官网 J9基因检测】心血管内科疾病风险评估考查中关于CACNA1D的要点

基因检测的序列名称：

CACNA1D

人体基因序列变化与疾病表征数据库中的基因代码：

776

人体基因序列数据库中国际研讨名称全称

calcium voltage-gated channel subunit alpha1 D

中国数据库中基因全称：

钙电压门控通道亚基α1D

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

电压依赖性钙通道介导钙离子进入可兴奋细胞的进入，并且还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以及基因表达。钙通道是由α-1，β，α-2/δ和γ亚基组成的多亚基复合物。通道活性由形成孔的α-1亚基控制，而其他通道则充当调节该活性的辅助亚基。钙通道类型的独特性质主要与各种alpha-1同工型，即alpha-1A，B，C，D，E和S的表达有关。该基因编码alpha-1D亚基。已经发现该基因的几种编码不同同工型的转录物变体。[由RefSeq给予，2012年12月]

国际国内该碱基基因序列的其他英语文字母简称：

CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第3号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：53529076；结束位置坐标为：53847179。该基因序列在GRCh38版本中的起始位置坐标为：53495049；结束位置坐标为：53813151。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

J9官网 J9基因解码对该基因的功能分类：国际版

Voltage-gated ion channels/Voltage-Gated Calcium Channels

基因解码对该基因的功能分类：中文版

电压门控离子通道/电压门控钙通道

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Nuclear membrane

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

核膜

该基因序列变化后增加的疾病风险（国际版）：

Cesarean section (finding); EMG: impaired neuromuscular transmission; Focal myoclonic seizures; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; Second degree atrioventricular block; Abnormal circulating renin; Metabolic alkalosis; Ventricular hypertrophy; Complex partial seizure with impairment of consciousness; Complex partial seizures; Decreased plasma renin activity; Cerebral Palsy; Polydipsia; Athetosis; Hyperaldosteronism; Adenoma; Blindness, Cortical; Cortical visual impairment; Hypokalemia; Bradycardia; Idiopathic pulmonary arterial hypertension; Pulmonary arterial hypertension; Spastic Paraplegia; Tonic - clonic seizures; Left Ventricular Hypertrophy; Pulmonary Hypertension; Severe mental retardation (I.Q. 20-34); Increase in blood pressure; Congenital deafness; Hearing Loss, Partial; Mood Disorders; Deafness; hearing impairment; Hypertensive disease; Cognitive delay; Global developmental delay; Mental and motor retardation; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

剖腹产（发现）；肌电图：神经肌肉传递受损；局灶性肌阵挛发作；原发性醛固酮增多症、癫痫发作和神经系统异常；窦房结功能障碍和耳聋；二度房室传导阻滞；肾素循环异常；代谢性碱中毒；心室肥大；伴有意识障碍的复杂部分性发作；复杂部分性发作；血浆肾素活性降低；脑瘫；烦渴；手足徐动症；醛固酮增多症;腺瘤;失明皮质;皮质视觉障碍；低钾血症；心动过缓；特发性肺动脉高压;肺动脉高压;痉挛性截瘫；强直 - 阵挛发作;左心室肥大；肺动脉高压;严重智力低下（IQ 20-34）；血压升高；先天性耳聋；部分听力损失；情绪障碍；耳聋；听力受损;高血压病；认知延迟；整体发育迟缓；智力和运动迟缓；常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Insulin Resistance

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

胰岛素抵抗

以该基因做靶点的药物（国际版）：

Isradipine (Voltage-gated calcium channel activity involved sa node cell action potential);Amlodipine (Voltage-gated calcium channel activity involved sa node cell action potential);Nimodipine (Voltage-gated calcium channel activity involved sa node cell action potential);Nisoldipine (Voltage-gated calcium channel activity involved sa node cell action potential);Cinnarizine (Voltage-gated calcium channel activity involved sa node cell action potential);Nicardipine (Voltage-gated calcium channel activity involved sa node cell action potential);Verapamil (Voltage-gated calcium channel activity involved sa node cell action potential);Ethanol (Voltage-gated calcium channel activity involved sa node cell action potential);Felodipine (Voltage-gated calcium channel activity involved sa node cell action potential);Nitrendipine (Voltage-gated calcium channel activity involved sa node cell action potential);Nifedipine (Voltage-gated calcium channel activity involved sa node cell action potential);Mibefradil (Voltage-gated calcium channel activity involved sa node cell action potential);Dronedarone (Voltage-gated calcium channel activity involved sa node cell action potential);Clevidipine (Voltage-gated calcium channel activity involved sa node cell action potential);Nilvadipine (Voltage-gated calcium channel activity involved sa node cell action potential)

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

Isradipine (Voltage-gated calcium channel activity involved sa node cell action potential);氨氯地平(Voltage-gated calcium channel activity involved sa node cell action potential);尼莫地平(Voltage-gated calcium channel activity involved sa node cell action potential);尼索地平(电压门控钙通道活动涉及 sa 节点细胞动作电位）；桂利嗪（电压门控钙通道活动涉及 sa 节点细胞动作电位）；尼卡地平（电压门控钙通道活动涉及 sa 节点细胞动作电位）；维拉帕米（电压-门控钙通道活动涉及 sa 节点细胞动作电位）；乙醇（电压门控钙通道活动涉及 sa 节点细胞动作电位）；非洛地平（电压门控钙通道活动涉及 sa 节点细胞动作电位）；尼群地平（电压门控钙通道活动涉及 sa 节点细胞动作电位）；硝苯地平（电压门控钙通道活动涉及 sa 节点细胞动作电位）；米贝拉地尔（电压门控钙通道活动涉及 sa 节点细胞动作电位）；决奈达隆（电压门控钙通道活动involved sa node cell action potential);Clevidipine (Voltage-gated calcium channel activity involved sa node cell action potential);Nilvadipine (Voltage-gated calcium channel activity involved sa node cell action potential)