| Protein Name | NPC intracellular cholesterol transporter 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 4864 |
| Gene Symbol | NPC1 |
| UniProt | O15118 (NPC1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
307
Total Number of Articles : 552 |
Description |
NPC intracellular cholesterol transporter 1 |
| Gene Summary |
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.[provided by RefSeq, Aug 2009] |
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| Properties | |