基因名:
Efhc1
产品别名:
1700029F22Rik; mRib72-1; myoclonin1; Efhc1; EF-hand domain (C-terminal) containing 1; EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; myoclonin-1; EFHC1蛋白;
背景信息:
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.
标签:His-tag
分类:Recombinant
类型:Protein
偶联物:Unconjugated
内毒素水平:按批次,参阅瓶身标签
性状:Liquid
浓度:Batch dependent (Please refer to the vial label for the specific concentration.)
纯化类型:purified
内含物:不含防腐剂
应用:Positive Control;Immunogen;SDS-PAGE;WB.
储存:2-8°C不超过一个月,-80°C不超过12个月。避免反复冻融。
注意事项:仅供实验室使用。不适用于人类或动物的任何临床,治疗或诊断用途。不适合动物或人类食用。