Description
Product Characteristics: The kit is a sandwich enzyme immunoassay for in vitro quantitative measurement of NPC2 in human serum, plasma, tissue homogenates.
Target Information: 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. [provided by RefSeq, Jul 2008]