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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Reconstitute with 0.2 mL of distilled water to yield a concentration of 500 µg/mL.
Positive Control - WB: rat pancreas tissue, mouse NIH3T3 whole cell.
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 type C1; Niemann-Pick C1 protein; NPC intracellular cholesterol transporter 1; sphingomyelinosis
基因别名: A430089E03Rik; C85354; Cdig2; D18Ertd139e; D18Ertd723e; lcsd; nmf164; NPC1; spm
UniProt ID: (Mouse) O35604
Entrez Gene ID: (Mouse) 18145, (Rat) 266732