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MA5-31807 has been tested in indirect ELISA.
Mutations in the Niemann-Pick disease type C1 (NPC1) gene result in a fatal progressive neurodegenerative disorder characterized by an abnormal sequestration of lipids including cholesterol and glycosphingolipids. The NPC1 protein is a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. NPC1 transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolyzed and released as free cholesterol. NPC1, in addition to FTO, MC4R, and PTER has recently been shown to be a new risk loci for early-onset and morbid adult obesity in European populations.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: FLJ98532; Niemann-Pick C1 protein; Niemann-Pick disease, type C1; NPC intracellular cholesterol transporter 1; truncated Niemann-Pick C1
基因别名: NPC; NPC1
UniProt ID: (Human) O15118
Entrez Gene ID: (Human) 4864