产品展示
EFHC1EFHC1蛋白抗体
点击次数：284发布时间：2012/12/5 16:21:12
更新日期：2024/9/5 14:43:01
所 在 地：中国大陆
产品型号：BY-9013R
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详细内容
货号：BY-9013R
英文名称：Anti-EFHC1
中文名称：EFHC1蛋白抗体
其他名称：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.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 74kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo
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.Tissue Specificity : Widely expressed
