Pub. Date : 2020 Jan 1
PMID : 31509197
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Niemann-Pick C1 (NPC1) disease is a rare genetic disorder triggered by mutations in NPC1, a multi-spanning transmembrane protein that is trafficked through the exocytic pathway to late endosomes (LE) and lysosomes (Ly) (LE/Ly) to globally manage cholesterol homeostasis. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
| 2 | Defects triggered by > 300 NPC1 variants found in the human population inhibit export of NPC1 protein from the ER and/or function in downstream LE/Ly, leading to cholesterol accumulation and onset of neurodegeneration in childhood. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
| 3 | Defects triggered by > 300 NPC1 variants found in the human population inhibit export of NPC1 protein from the ER and/or function in downstream LE/Ly, leading to cholesterol accumulation and onset of neurodegeneration in childhood. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |