本公司经销NHLRC1，肌痉挛性癫痫病相关EPM2蛋白抗体，克隆类型为polyclonal，宿主来源是Rabbit，NHLRC1肌痉挛性癫痫病相关EPM2蛋白抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！
货号：BY-9331R
英文名称：Anti-NHLRC1
中文名称：肌痉挛性癫痫病相关EPM2蛋白抗体
其他名称：名E3 ubiquitin-protein ligase NHLRC1;EPM2A;EPM2B;Malin;MGC119262;MGC119264;NHL repeat containing 1;NHL repeat containing protein 1;NHL repeat-containing protein 1;NHLC1_HUMAN;NHLRC 1;Nhlrc1.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 43kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat
产品介绍：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.Subcellular Location : Endoplasmic reticulum. Nucleus. Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.Tissue Specificity : Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle ａnd pancreas.
