NPC1 antibody

GeneTex

NPC1 antibody

10

Western Blot, ELISA, ImmunoHistoChemistry, ImmunoHistoChemistry Paraffin

Research Use Only

Polyclonal

1 mg/ml

Rabbit

IgG

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.[provided by RefSeq, Aug 2009]

Human, Mouse

2°C to 8°C,-20°C

12352203