NPC1-like intracellular cholesterol transporter 1, Niemann-Pick C1-like protein 1
Molecular Characterization: NPC1L1(Glu22-Ser284)6A-His tagMolecular weight: The protein has a predicted molecular mass of 28.8 kDa after removal of the signal peptide. The apparent molecular mass of NPC1L1-His is approximately 35-55 kDa due to glycosylation.Description: Recombinant human NPC1L1 protein with C-terminal6A-His tagThe 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.
