NPC1


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NPC1

A gene on chromosome 18q11-q12 that encodes a large protein residing in the limiting membrane of endosomes and lysosomes, which mediates intracellular cholesterol trafficking by binding cholesterol to its N-terminal domain.
 
Molecular pathology
NPC1 mutations are linked to Niemann-Pick disease, type C1.
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NPC1 typically transports cholesterol through a cell; without the protein, people can develop dementia.
Caption: The Ebola virus hijacks a protein called NPC1 to invade a host cell, as seen in this illustration.
NPC1 has a vital function in cells - transporting cholesterol - but scientists say this should not prove to be an insurmountable obstacle to treatment.
The NPC1 protein is embedded within cell membranes, where it helps transport cholesterol within the cell.
To confirm their finding that NPC1 is crucial for Ebola virus infection, the researchers challenged mice carrying a mutation in NPC1 with Ebola virus.
At 50% stress level, there was practically no increase for the FRC10S and FRC30S while there was a slight increase for NPC1 and FRC12M compared to 30 % stress level, the increment could be due to the testing variation.
The increase is highest for NPC1. FRC30S shows the similar increase of NPC1 at this loading range.
Previous studies in mice have suggested that this gene has a role in controlling appetite, as mice with a non-functioning NPC1 gene suffer late-onset weight loss and have poor food intake.