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)
Inmunógeno
NPC2 (NP_006423.1, 1 a.a. ~ 151 a.a) full-length human protein.
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