Recombinant Human NPC1


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Recombinant Human NPC1

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Cat.No. : NPC1-29132TH
Product Overview : Recombinant fragment, corresponding to amino acids 151-250 of Human Niemann Pick C1, with an N-terminal proprietary tag, predicted MWt 36.63 kDa
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.
Protein length : 100 amino acids
Molecular Weight : 36.630kDa inclusive of tags
Source : Wheat germ
Form : Liquid
Purity : Proprietary Purification
Storage buffer : pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
Storage : Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequence Similarities : Belongs to the patched family.Contains 1 SSD (sterol-sensing) domain.
Gene Name : NPC1 Niemann-Pick disease, type C1 [ Homo sapiens ]
Official Symbol : NPC1
Synonyms : NPC1; Niemann-Pick disease, type C1; Niemann-Pick C1 protein;
Gene ID : 4864
mRNA Refseq : NM_000271
Protein Refseq : NP_000262
MIM : 607623
Uniprot ID : O15118
Chromosome Location : 18q11-q12
Pathway : Lysosome, organism-specific biosystem; Lysosome, conserved biosystem;
Function : hedgehog receptor activity; protein binding; receptor activity; sterol transporter activity; transmembrane signaling receptor activity;

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