| Entrez gene ID | | 4864 |
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| Official gene symbol | | NPC1 |
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| Full name | | Niemann-Pick disease, type C1 |
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| Aliases | | ,FLJ98532,NPC, |
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| 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. |
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| Location | | Chromosome: 18 Locus: 18q11-q12 |
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| Gene position | | 21166581 - 21111463 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 55119 bp |
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| Gene sequence |
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| OMIM ID | | 607623 |
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