NPC1 Antibody

Product	NPC1 Antibody
Cat#	100-17-10A
Unit/Weight	100 μg
Unit Price	$311.00
Species Reactivity	H
Tested Application(s)	E, WB, IHC
Brief Description	Niemann-Pick disease type C1
Specific Description	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 hydrolized 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. This anti-NPC1 antibody will not cross-react to NPC2, another gene whose defects also result in Niemann-Pick type C disease.
Storage	NPC1 antibody can be stored at 4°C, stable for one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.