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Positive Control: SiHa, A549, HepG2, PC-3M, Rat kidney tissue, human kidney tissue, mouse testis tissue, SH-SY-5Y.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: FLJ98532; Niemann-Pick C1 protein; Niemann-Pick disease, type C1; NPC intracellular cholesterol transporter 1; truncated Niemann-Pick C1
Gene Aliases: NPC; NPC1
UniProt ID: (Human) O15118
Entrez Gene ID: (Human) 4864
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