NCBI Description of NPC2
|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.|
Community Annotation of NPC2 Add / Edit NPC2: Annotations
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