Invitrogen™ NPC1 Recombinant Rabbit Monoclonal Antibody (24GB620)

Beschreibung

NPC1 Recombinant Monoclonal Antibody for Western Blot, ICC/IF, Flow

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.