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NPC2

Official Full Name
NPC intracellular cholesterol transporter 2
Organism
Homo sapiens
GeneID
10577
Background
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]
Synonyms
HE1; EDDM1;

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