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 and ELISA.
Other applications have not been tested.
Recommended Dilutions:Immunohistochemistry: Formalin-fixed, paraffin-embedded sectionsOptimal dilutions to be determined by the researcher.
Storage and Stability:Store product at 4°C.
DO NOT FREEZE! Stable at 4°C for 12 months after receipt as an undiluted liquid.
Dilute required amount only prior to immediate use.
Further dilutions can be made in assay buffer.
For maximum recovery of product, centrifuge the original vial prior to removing the cap.
Note: Applications are based on unconjugated antibody.
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. No preservative added. Labeled with Alkaline Phophatase (AP).
Specificity：Recognizes human NPC1
Isotype：IgG
Calc Applications Abbrev：E 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
