NPC1 Antilichaam

NPC1 Antibody: 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.

4864

O15118

NP_000262

Human, Mouse

Unconjugated

Primary Antibodies

Obesity

NPC1 Antibody is affinity chromatography purified via peptide column.

Cat. No. 1211 - HepG2 Cell Lysate

1 mg/mL

Predicted species reactivity based on immunogen sequence: Pig: (87%)

NPC1 Antibody is supplied in PBS containing 0.02% sodium azide.

None

Blue Ice

NPC1 antibody can be stored at 4˚ C, stable for up to one year. Antibodies should not be exposed to prolonged high temperatures.

IgG

NPC1

Niemann-Pick disease, type C1

Homo sapiens

Karten B, Peake KB, and Vance JE. Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells. Biochim. Biophys. Acta2009; 1791:656-70.

Carstea ED, Polymeropoulos MH, Parker CC, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc. Natl. Acad. Sci. USA1993; 90:2002-4.

Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science1977; 277:228-31.

Garver WS and Heidenreich RA. The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system. Curr. Mol. Med.2002; 2:485-505.

NPC1 Antibody: NPC, Niemann-Pick C1 protein

ELISA, WB, IHC-P, IF

255652944

Liquid