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神经细胞蜡样质脂褐质沉积病蛋白CLN8抗体
半岛bd体育手机客户端 介绍
靶标：
CLN8 半岛bd体育手机客户端 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：
ceroid-lipofuscinosis, neuronal 8(CLN8) Homo sapiens This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008],
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