| GENE NAME | NPC1 |
| CHROMOSOME | 18 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000141458 |
| UNIPROT ACCESSION NUMBER | O15118 |
| GO MOLECULAR FUNCTION | ['signaling receptor activity', 'transmembrane signaling receptor activity', 'sterol transporter activity', 'protein binding', 'virus receptor activity', 'cholesterol binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04142; hsa04979; R-HSA-174824; R-HSA-382551; R-HSA-8964038; R-HSA-8964043 |
| 2 combinations linked to NPC1 | OLI929; OLI1241 |
| 2 variants linked to NPC1 | NPC1:c.3560C>T, p.Ala1187Val; NPC1:c.352_353delAG, p.Gln119ValfsTer8 |
| 2 diseases linked to NPC1 | Transposition of the great arteries; Niemann-Pick disease type C |