【佳学基因检测】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交流名称全称
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提供,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精准定位
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。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。
佳学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,可能有精准效果的药物(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)
- 【佳学基因检测】智力障碍病人需要做什么检查?...
- 【佳学基因检测】智力遗传基因检测多少钱?...
- 【佳学基因检测】颚骨骨化纤维瘤基因检测机构介绍...
- 【佳学基因检测】多发性软骨瘤病基因检测机构介绍...
- 【佳学基因检测】外耳道异位症基因检测机构介绍...
- 【佳学基因检测】内生软骨瘤基因检测机构介绍...
- 【佳学基因检测】骨瘤基因检测机构介绍...
- 【佳学基因检测】骨样骨瘤( Osteoid osteoma)基因检测机构介绍...
- 【佳学基因检测】外生骨疣基因检测机构介绍...
- 【佳学基因检测】肋骨外生骨疣(Rib exostoses)基因检测机构介绍...
- 【佳学基因检测】肩胛骨外生骨疣( Scapular exostoses)基因检测机构介绍...
- 【佳学基因检测】前臂骨骼的异常基因检测机构介绍...
- 【佳学基因检测】尺骨的畸形基因检测机构介绍...
- 【佳学基因检测】桡骨外生骨疣( Exostoses of the radius)基因检测机构介绍...
- 【佳学基因检测】径向干骺端外生骨疣基因检测机构介绍...
- 【佳学基因检测】多发性外生骨疣( Multiple exostoses)基因检测机构介绍...
- 【佳学基因检测】头颈部肿瘤基因检测机构介绍...
- 【佳学基因检测】面部肿瘤基因检测机构介绍...
- 【佳学基因检测】鼻肿瘤基因检测机构介绍...
- 【佳学基因检测】下颌肿瘤基因检测机构介绍...
- 【佳学基因检测】青少年鼻咽纤维血管瘤基因检测机构介绍...
- 【佳学基因检测】口腔肿瘤基因检测机构介绍...
- 【佳学基因检测】食道肿瘤基因检测机构介绍...
- 【佳学基因检测】骨骼系统肿瘤基因检测机构介绍...
- 【佳学基因检测】软骨肉瘤基因检测机构介绍...
- 【佳学基因检测】骨肉瘤基因检测机构介绍...
- 【佳学基因检测】成骨细胞瘤( Osteoblastoma)基因检测机构介绍...
- 【佳学基因检测】骨巨细胞瘤(Giant cell tumor of bone)基因检测机构介绍...
- 【佳学基因检测】骨软骨瘤基因检测机构介绍...
- 【佳学基因检测】软骨母细胞瘤基因检测机构介绍...
- 来了,就说两句!
-
- 最新评论 进入详细评论页>>