Anti-Niemann Pick C1/NPC1 Antibody Picoband® fluoro488 Vervoeging

Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans it is encoded by the NPC1 gene (chromosome location 18q11) . 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-absorbance 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.

Niemann-Pick C1 protein; NPC1

NPC1

4864

O15118

Human, Mouse, Rat

No cross-reactivity with other proteins.

A synthetic peptide corresponding to a sequence in the middle region of human Niemann Pick C1/NPC1.

Flow Cytometry

Apoptosis, Cancer, Cell Death, Cytokines, Growth Factors, Growth Factors/Hormones, Immunology, Innate Immunity, Invasion/Microenvironment, Receptors, Signal Transduction, TNF Superfamily

Immunogen affinity purified.

Liquid

Intracellular cholesterol transporter which acts in concert with NPC2 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. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.

1. Entrez Gene: NPC1 Niemann-Pick disease, type C1. 2. Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT (March 1993) . Linkage of Niemann-Pick disease type C to human chromosome 18. Proc. Natl. Acad. Sci. U.S.A. 90 (5) : 2002–4.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

NPC intracellular cholesterol transporter 1

Late endosome membrane.

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.