NPC2 Antibody / Niemann Pick C2

NPC2 is a protein associated with Niemann-Pick disease, type C. This gene is mapped to chromosome 14q24.3. It 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.