Anti-EFHC1抗体-抗体-抗体-生物在线
Anti-EFHC1抗体

Anti-EFHC1抗体

商家询价

产品名称: Anti-EFHC1抗体

英文名称: EFHC1

产品编号: YB--9013R

产品价格: null

产品产地: 中国/美国

品牌商标: Ybscience

更新时间: 2023-08-17T10:29:50

使用范围: 科研使用

上海钰博生物科技有限公司
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 Anti-EFHC1抗体

产品编号 YB-9013R
英文名称 EFHC1
中文名称 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/1580元 购买    200ul/2480元 购买    大包装/询价
说 明 书 100ul  200ul
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 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 IF=1:50-200 (石蜡切片需做抗原修复) 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 74kDa
细胞定位 细胞浆 
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human EFHC1:301-400/640 
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.
PubMed PubMed
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. 

SWISS:
Q5JVL4

Gene ID:
114327

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.