NPC1 (Niemann-Pick C1 Protein)

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.\n\nApplications:\nSuitable for use in ELISA, Western Blot, Immunofluorescence and Immunohistochemistry. Other applications not tested.\n\nRecommended Dilution:\nWestern Blot: 1ug/ml\nImmunohistochemistry (Formalin fixed paraffin embedded): 2.5ug/ml\nImmunofluorescence: 20ug/ml\nOptimal dilutions to be determined by the researcher.\n\nPositive Control:\nHuman Kidney Tissue Lysate\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

146447

Size

100ug

Applications

ELISA, IF, IHC, WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a liquid in PBS, 0.02% sodium azide.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

1. Karten B, Peake KB, and Vance JE. Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells. Biochim. Biophys. Acta 2009; 1791:656-70. 2. Carstea ED, Polymeropoulos MH, Parker CC, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc. Natl. Acad. Sci. USA 1993; 90:2002-4. 3. Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1977; 277:228-31. 4. 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.

Additional Info

Recognizes human NPC1.