Pub. Date : 2020 Mar
PMID : 32060698
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | It is a lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes, leading to a lysosomal cholesterol trafficking impairment. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |