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.
Product Name:
Human NPC1 Recombinant Protein (RPES2958)
Product Code:
RPES2958
Size:
100 µg
Species:
Human
Expressed Host:
HEK293 Cells
Synonyms:
NPC
Accession:
NP_000262.2
Sequence:
Arg372-Phe622
Fusion tag:
N-His & FLAG
Endotoxin:
<1.0 EU per µg of the protein as determined by the LAL method.
Protein Construction:
A DNA sequence encoding the human NPC1 (NP_000262.2) (Arg372-Phe622) was expressed with a N-terminal polyhistide-tagged FLAG tag at the N-terminus (his-FLAG).
Purity:
> 95 % as determined by reducing SDS-PAGE.
Mol Mass:
32 kDa
Formulation:
Lyophilized from sterile PBS, pH 7.4
Shipping:
This product is provided as lyophilized powder which is shipped with ice packs.
Stability and Storage:
Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.
