| Gene Symbol | NPC1 |
| Chromosome | 18q11.2 |
| Protein Type | Transporter |
| Function | It functions as a key transporter in the late endosomal/lysosomal (LE/LY) system[4] |
| Subcellular Localization | the limiting membrane of late endosomes and lysosomes. It functions as a key transporter in the **late endosomal/lysosom |
| Pathways | Wnt signaling pathway |
| GeneCards | NPC1 |
| Human Protein Atlas | NPC1 |
| Inheritance | Autosomal recessive |
| Onset | Variable (infantile, juvenile, adult) |
| Neurological | Ataxia, dystonia, seizures, vertical supranuclear gaze palsy |
| Systemic | Hepatosplenomegaly, cholestatic jaundice |
| Cognitive | Progressive dementia, learning disabilities |
| Death | Usually in second or third decade |
| Variant | Effect |
| Associated Diseases | Als, Ms, Neurodegeneration, Niemann-Pick Type C1 Disease, Niemann-Pick disease type C1, Niemann_Pick_disease |
| Interactions | STING1, STING, CD63, CGAS, VAPB, GBA |
| KG Connections | 240 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |