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
半岛bd体育手机客户端 介绍
基因名:
Nhlrc1 半岛bd体育手机客户端 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.
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