The NPC2 gene provides instructions for making a protein that is located inside lysosomes, which are compartments in the cell that digest and recycle materials. The NPC2 protein attaches (binds) to cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods. Research suggests that the NPC2 protein plays an important role in moving cholesterol and certain other fats (lipids) out of the lysosomes to other parts of the cell.
Other Names
epididymal secretory protein; HE1; MGC1333; Niemann-Pick disease, type C2; NP-C2; NPC2_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 10577
- OMIM: 601015
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
