Monoclonal Anti-NPC1 antibody produced in mouse, clone 4H2, purified immunoglobulin, buffered aqueous solution

Not available outside of the UK & Ireland.

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General description

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

Immunogen

NPC1 (AAH63302, 151 a.a. ~ 250 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceGFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK

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Physical form

Solution in phosphate buffered saline, pH 7.4