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NPC2 - NPC intracellular cholesterol transporter 2

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]

Genes similar to NPC2

NCBI Orthologs

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Species Gene Architecture aa