NPC1 encodes a putative integral membrane protein containing sequence motifs consistent with a role in intracellular transport of cholesterol and sphingosine to post-lysosomal destinations.

[8] Obesity is a widely known disorder that is caused by having too high of a body fat percentage (defined as more than 25% body fat percentage for men, and more than 33% for women) — specifically a large excess of white adipose tissue — responsible for dramatically increasing the risks of developing other medical conditions such as Type 2 diabetes, high blood pressure, osteoarthritis, cancer, and many more.

[9] This gene also interacts with diets consisting of high fats to increase weight gain through "differential regulation of central energy metabolism pathways.

"[10] Specifically, presence of this gene showed significantly increased glycolysis and lipogenesis (which involve turning excess glucose or carbohydrates into fats).

Although this isn't a study involving humans, it can be presumed that very similar results will be obtained for people as well and provides valuable information related to this genetic disease and disorder.

[12] Results from many previous studies suggest that NPC1 plays a role in adipocyte processes which underlie causes in obesity.

[15][16] In one of the studies, NPC1 was shown to be critical to filovirus entry because it mediates infection by binding directly to the viral envelope glycoprotein.

[16][18] In the other study, mice that were heterozygous for NPC1 were shown to be protected from lethal challenge with mouse adapted Ebola virus.

In a mouse model carrying the underlying mutation for Niemann-Pick type C1 disease in the NPC1 protein, the expression of Myelin gene Regulatory Factor (MRF) has been shown to be significantly decreased.

[19] This article incorporates text from the United States National Library of Medicine, which is in the public domain.