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npc2

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Official Full Name
Niemann-Pick disease, type C2
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
NPC2; Niemann-Pick disease, type C2; HE1; EDDM1; epididymal secretory protein E1; epididymal protein 1; tissue-specific secretory protein; human epididymis-specific protein 1; Niemann-Pick disease type C2 protein; NP C2; MGC1333; cb292; sb:cb292; 16.5 kDa secretory protein; niemann Pick type C2 protein homolog

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