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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.
2700012J19Rik; AA408070; AU045843; EDDM1; epididymal protein 1; epididymal secretory protein 1; epididymal secretory protein E1; HE1; human epididymis-specific protein 1; mE1; MGC1333; Niemann Pick type C2; niemann Pick type C2 protein homolog; Niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; Niemann-Pick type C2; NPC intracellular cholesterol transporter 2; Npc2; NP-C2; re1; tissue-specific secretory protein
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