重组神经细胞蜡样质脂褐质沉积病蛋白CLN8
交货期:1周
产品别名:Recombinant CLN8
Recombinant CLN8 transmembrane ER and ERGIC protein
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.
产品发布日期:2025.08.07