The protein encoded by this gene is a multi-pass membrane
protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1)
domain and a putative sterol-sensing domain (SSD) which includes a
YQRL motif functioning as a plasma membrane to trans-Golgi network
transport signal in other proteins. This protein takes up free
cholesterol into cells through vesicular endocytosis and plays a
critical role in the absorption of intestinal cholesterol. It also
has the ability to transport alpha-tocopherol (vitamin E). The drug
ezetimibe targets this protein and inhibits the absorption of
intestinal cholesterol and alpha-tocopherol. In addition, this
protein may play a critical role in regulating lipid metabolism.
Polymorphic variations in this gene are associated with plasma
total cholesterol and low-density lipoprotein cholesterol (LDL-C)
levels and coronary heart disease (CHD) risk. Alternatively spliced
transcript variants encoding different isoforms have been found for
this gene.1) Hu, M., et al. Pharmacogenet. Genomics 20(10):634-637(2010)
Immunogen
This NPC1L1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 294-323 amino acids from the N-terminal region of human NPC1L1.
Western blot analysis in 293 cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000:
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.