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.
Applications:Suitable for use in Western Blot, Immunohistochemistry, Immunofluorescence and ELISA.
Other applications have not been tested.
Recommended Dilutions:Western Blot: 1:1000Immunofluorescence: 1:10-1:50Immunohistochemistry (FFPE): 1:10-1:50Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by Protein A and peptide affinity chromatography
Form：Supplied as a liquid in PBS, pH 7.2, 0.05% Proclin 300
Specificity：Recognizes human NPC1
Isotype：IgG
Calc Applications Abbrev：E IF IHC WB
Calc Crossreactivity：Hu
Immunogen：KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 591-620 in the central region of human NPC1
