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肌痉挛性癫痫病相关EPM2A蛋白抗体
半岛bd体育手机客户端 介绍
靶标:
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:
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).
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