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- Tel: 858.663.9055
- Email: info@nsjbio.com
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This gene encodes 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. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.
Titration of the NPC1 antibody may be required due to differences in protocols and secondary/substrate sensitivity.
A portion of amino acids 591-620 from the human protein was used as the immunogen for this NPC1 antibody.
Aliquot the NPC1 antibody and store frozen at -20oC or colder. Avoid repeated freeze-thaw cycles.
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