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)
Function
cholesterol binding; enzyme binding;
Synonyms
NPC2; Niemann-Pick disease, type C2; epididymal secretory protein E1; EDDM1; epididymal protein 1; HE1; NP C2; tissue-specific secretory protein; human epididymis-specific protein 1; niemann-Pick disease type C2 protein; MGC1333;
Citations
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