The NPC1 gene provides instructions for making a protein that is located within the membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle materials. While the exact function of this protein is unclear, it plays a role in the movement of cholesterol and other types of fats (lipids) within cells and across cell membranes.
Other Names
Niemann-Pick disease, type C1; NPC
Related Genetics Topics
Identifiers
- NCBI Gene: 4864
- OMIM: 607623
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
