NPC2

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolNPC2
NameNPC intracellular cholesterol transporter 2
Typeprotein-coding
Sourcemygene

Summary

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].

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This is an externally resolved entity

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