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蛋白质/抗原/多肽 >> 重组蛋白
重组肌痉挛性癫痫病相关EPM2A蛋白
重组肌痉挛性癫痫病相关EPM2A蛋白图片
交货期: 1周
索取资料及报价
交货期:1周
产品别名:Recombinant Nhlrc1
Recombinant NHL repeat containing 1 protein
产品介绍
基因名:

Nhlrc1


产品别名:

AI505271; B230309E09Rik; EPM2B; Nhlrc1; NHL repeat containing 1; NHL repeat containing 1; E3 ubiquitin-protein ligase NHLRC1; NHL repeat-containing protein 1; RING-type E3 ubiquitin transferase NHLRC1; malin; 肌痉挛性癫痫病相关EPM2A蛋白;


背景信息:
Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disease characterized by grand mal seizures and/or myoclonus at about 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features. Survival is less than 10 years after onset. Starch-like, endoplasmic reticulum-associated polyglucosans, called Lafora bodies, can be observed in brain, muscle, liver and heart. One cause of Lafora disease is due to mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been shown to cause EPM2. Malin, also called NHL repeat-containing protein 1, is a single subunit E3 ubiquitin ligase, containing 6 NHL repeats and 1 RING-type zinc finger. Malin’s RING domain is responsible for its ability to mediate ubiquitination. Malin interacts with and polyubiquitinates Laforin, a protein also implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. Malin is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.

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。

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