Pub. Date : 2020 Apr
PMID : 32114296
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
2 | Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
3 | Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |