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NPC2 NPC intracellular cholesterol transporter 2

Also known as: HE1; EDDM1

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]

Genomic context

Location:
14q24.3
Sequence:
Chromosome: 14; NC_000014.9 (74479940..74493381, complement)
Total number of exons:
5

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