NPC2( Human )

Entrez Gene 10577 Entrez Gene 10577
NPC intracellular cholesterol transporter 2

Alias

EDDM1|HE1

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].

Product Category