| Protein Name | NPC1 like intracellular cholesterol transporter 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 29881 |
| Gene Symbol | NPC1L1 |
| UniProt | Q9UHC9 (NPCL1_HUMAN), A0A0C4DFX6 (A0A0C4DFX6_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
109
Total Number of Articles : 240 |
Description |
NPC1 like intracellular cholesterol transporter 1 |
| Gene Summary |
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. [provided by RefSeq, Oct 2009] |
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