蛋白质/抗原/多肽 >> 重组蛋白
重组神经细胞蜡样质脂褐质沉积病蛋白CLN8
产品介绍 基因名: CLN8 产品别名: C8orf61; EPMR; TLCD6; CLN8; CLN8 transmembrane ER and ERGIC protein; CLN8 transmembrane ER and ERGIC protein; protein CLN8; ceroid-lipofuscinosis, neuronal 8; 神经细胞蜡样质脂褐质沉积病蛋白CLN8; 背景信息: CLN8, a 286 amino acid transmembrane protein, localizes mainly to the endoplasmic reticulum, but also partially to the ER-Golgi intermediate compartment (ERGIC). Mutations in the CLN8 gene cause neuronal ceroid lipofuscinosis 8 and progressive epilepsy with mental retardation (EPMR). Both disorders are forms of neuronal ceroid-lipofuscinose (NCL), a group of progressive neurodegenerative diseases found in children, characterized by failure of psychomotor development, impaired vision, seizures and premature death. The CLN8 protein is one of eight proteins in the CLN family, including CLN1-CLN7, which are associated with NCL. 标签:His-tag |
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