Product Overview
Blocking/Immunizing peptide for anti-Npc1(mouse) antibody
Tag/Conjugate
Unconjugated
Application Notes
For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.
Format
Lyophilized powder
Storage
Shipped at ambient temperature, store at -20°C.
Antigen 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.[provided by RefSeq, Aug 2009]
Function
protein binding;
Synonyms
NPC1; Niemann Pick type C1; Niemann-Pick C1 protein; sphingomyelinosis; spm; lcsd; C85354; nmf164; D18Ertd139e; D18Ertd723e; A430089E03Rik;
Citations
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Christomanou, H; Vanier, MT; et al. Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group. MOLECULAR GENETICS AND METABOLISM 70:196-202(2000).
Ong, WY; Hu, CY; et al. Neuronal localization of sterol regulatory element binding protein-1 in the rodent and primate brain: A light and electron microscopic immunocytochemical study. NEUROSCIENCE 97:143-153(2000).