NPC2

The NPC2 gene provides instructions for producing a protein that is located mainly inside lysosomes, compartments in the cell that digest and recycle materials. The NPC2 protein binds to cholesterol. Research suggests that it plays an important role in moving cholesterol and certain other lipids (fats) out of the lysosomes to other parts of the cell, but the exact function of the NPC2 protein is unknown.

Niemann-Pick disease - caused by mutations in the NPC2 gene

More than 15 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. Mutations in the NPC2 gene are responsible for approximately 5 percent of all Niemann-Pick disease type C cases. Mutations that prevent any NPC2 protein from being made or that drastically shorten the NPC2 protein usually result in very severe disease with infant or juvenile onset. Mutations that change a single protein building block (amino acid) in the NPC2 protein usually retain some protein activity and result in less severe, more slowly progressing Niemann-Pick disease. These mutations cause the abnormal accumulation of lipids in cells and prevent normal cell function.