Anti-Niemann Pick C2/NPC2 Antibody Picoband® Fluoro488 Conjugated

NPC2 is a protein associated with Niemann-Pick disease, type C. This gene is mapped to chromosome 14q24.3. It encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

A synthetic peptide corresponding to a sequence at the C-terminus of human Niemann Pick C2, which shares 79.4% and 76.5% amino acid (aa) sequence identity with mouse and rat Niemann Pick C2, respectively.

Cardiovascular, Cholesterol Metabolism, Energy Metabolism, Energy Transfer Pathways, Lipid and Lipoprotein Metabolism, Lipid Metabolism, Lipids/Lipoproteins, Metabolic Signaling Pathways, Metabolism, Neurodegenerative Disease, Neurology Process, Neuroscience, Pathways and Processes, Signal Transduction

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport.

1. Blom, T. S., Linder, M. D., Snow, K., Pihko, H., Hess, M. W., Jokitalo, E., Veckman, V., Syvanen, A.-C., Ikonen, E. Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum. Molec. Genet. 12: 257-272, 2003. 2. Klunemann, H. H., Elleder, M., Kaminski, W. E., Snow, K., Peyser, J. M., O'Brien, J. F., Munoz, D., Schmitz, G., Klein, H. E., Pendlebury, W. W. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann. Neurol. 52: 743-749, 2002.