Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
NPC disease gene 1
Niemann-Pick C1 protein gene Niemann-Pick disease, type C1 |
| gptkbp:associatedWith |
Niemann-Pick disease type C1
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
NPC1 protein
|
| gptkbp:Entrez_Gene_ID |
4864
ENSG00000141458 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
cholesterol transport
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
7897
|
| https://www.w3.org/2000/01/rdf-schema#label |
NPC1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_18
|
| gptkbp:mutationAssociatedWith |
gptkb:Niemann-Pick_disease_type_C
|
| gptkbp:OMIM |
607623
|
| gptkbp:orthologInMouse |
Npc1
|
| gptkbp:product |
NPC1 protein
|
| gptkbp:bfsParent |
gptkb:Niemann-Pick_disease_type_C
|
| gptkbp:bfsLayer |
7
|