Niemann Pick C2 Antibody / NPC2

Epididymal secretory protein E1 (also called NPC intracellular cholesterol transporter 2, or NPC2) is a protein associated with Niemann-Pick disease, type C. It is mapped to 14q24.3. This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.