| Gene Symbol | NPC1 |
| Entrez Gene ID | 4864 |
| Full Name | NPC intracellular cholesterol transporter 1 |
| Synonyms | NPC,SLC65A1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Niemann-Pick disease, type C1, 257220 (3); Niemann-Pick disease, type D, 257220 (3) |
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