FITC标记的EFHC1蛋白抗体
产品名称： FITC标记的EFHC1蛋白抗体
英文名称： Anti-EFHC1/FITC
产品编号： HZ-9013R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： IF=1:50-200
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Rabbit Anti-EFHC1/FITC Conjugated antibody
FITC标记的EFHC1蛋白抗体
| 产品编号 | bs-9013R-FITC |
| 英文名称 | Anti-EFHC1/FITC |
| 中文名称 | FITC标记的EFHC1蛋白抗体 |
| 别 名 | EF hand domain (C terminal) containing 1; EF hand domain containing protein 1; EF-hand domain-containing protein 1; Efhc1; EFHC1_HUMAN; EJA1; EJM1; FLJ10466; FLJ37290; JAE; Myoclonin 1; Myoclonin-1. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 研究领域 | 细胞生物 免疫学 神经生物学 信号转导 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Sheep, |
| 产品应用 | IF=1:50-200 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 74kDa |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human EFHC1 |
| 亚 型 | IgG |
| 纯化方法 | affinity purified by Protein A |
| 储 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存条件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 产品介绍 | background: Defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]. EJM1 is a subtype of idiopathic generalized epilepsy (IGE). Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Genetic variations in EFHC1 are the cause of susceptibility to juvenile absence epilepsy type 1 (JAE1) . JAE is a subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death. Subunit: Interacts with the C-terminus of CACNA1E. Tissue Specificity: Widely expressed. Not detected in lymphocytes. DISEASE: Defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]. EJM1 is a subtype of idiopathic generalized epilepsy (IGE). Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Genetic variations in EFHC1 are the cause of susceptibility to juvenile absence epilepsy type 1 (JAE1) [MIM:607631]. JAE is a subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. Similarity: Contains 3 DM10 domains. Contains 1 EF-hand domain. Database links: Entrez Gene: 114327 Human Entrez Gene: 71877 Mouse Omim: 608815 Human SwissProt: Q5JVL4 Human SwissProt: Q9D9T8 Mouse Unigene: 403171 Human Unigene: 29178 Mouse
Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications |
EFHC1的缺陷是青少年肌阵挛性癫痫1型（EJM1）的原因[MIM：254770 ]。EJM1是特发性全身性癫痫（IgE）的一个亚型。患者只有非热性发作，发病于青春期（而非儿童期）和肌阵挛性抽搐，通常在觉醒后发生，并由睡眠剥夺和疲劳触发。
EFHC1的遗传变异是青少年失神癫痫1型（JAE1）易感性的原因。JAE是一种特发性全身性癫痫的亚型，其特征是发生在青春期、失神发作、全身强直阵挛发作（GTCs）、觉醒时的GTCs和肌阵挛发作。