Aliases:This biomarker is also known as:
- Niemann-Pick disease, type C2,
- Niemann-Pick disease type C2 protein,
- Human epididymis-specific protein 1,
- Epididymal secretory protein E1,
NPC2, a secreted protein containing a lipid recognition domain, may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. NPC2 may be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.
|QA State:||Under Review|
There are no datasets associated with this biomarker.