Anti-Niemann Pick C2/NPC2 Picoband® Antibody Fluoro647 Conjugated

Epididymal secretory protein E1 (also called NPC intracellular cholesterol transporter 2, or NPC2) is a protein associated with Niemann-Pick disease, type C. It is mapped to 14q24.3. This gene 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.

NPC intracellular cholesterol transporter 2; Epididymal secretory protein E1; Human epididymis-specific protein 1; He1; Niemann-Pick disease type C2 protein; NPC2; HE1

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 lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. May bind and mobilize cholesterol that is associated with membranes. NPC2 binds cholesterol with a 1:1 stoichiometry. Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol. 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. Sleat, D. E., Wiseman, J. A., El-Banna, M., Price, S. M., Verot, L., Shen, M. M., Tint, G. S., Vanier, M. T., Walkley, S. U., Lobel, P. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc. Nat. Acad. Sci. 101: 5886-5891, 2004. 3. Verot, L., Chikh, K., Freydiere, E., Honore, R., Vanier, M. T., Millat, G. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin. Genet. 71: 320-330, 2007.