NPC1


Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.

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.
Mentioned in ?
References in periodicals archive ?
Carrier" mice-those with just one working copy of NPC1 and therefore possessing half the normal complement of NPC1 receptors-proved substantially but not totally resistant to Ebola infection.
Chandran said, "future research in humans, based on these findings, will lead to the development of antiviral drugs that can effectively target NPC1 and prevent infection not just by Ebola, but also by other highly virulent filoviruses, which also require NPC1 as a receptor.
But scientists didn't know just how crucial NPC1 was for Ebola's dirty work.
NPC1 typically transports cholesterol through a cell; without the protein, people can develop dementia.
Dr Kartik Chandran, of the Albert Einstein College of Medicine in New York, said: "Mice lacking both copies of the NPC1 gene, and therefore devoid of NPC1 protein, were completely resistant to infection.
To confirm their finding that NPC1 is crucial for Ebola virus infection, the researchers challenged mice carrying a mutation in NPC1 with Ebola virus.