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RabbitAnti-EFHC1 Rabbit pAb  antibody (bs-9013R)
~~~促销,代码KXJ230206~~~
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说明书: 50ul  100ul  200ul
50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包装/询价
产品编号 bs-9013R
英文名称 EFHC1 Rabbit pAb
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.  
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
克 隆 号
交叉反应 (predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Sheep, )
产品应用 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 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.
理论分子量 74 kDa
检测分子量
细胞定位 细胞浆 
性    状 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
缓 冲 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 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




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