NPC intracellular cholesterol transporter 2

ENTREZID: 10577 | Type: NA | Map: 14q24.3

OMIM: 300335

Summary Entrez
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]