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| Entrez gene ID | 10577 |
| Official gene symbol | NPC2 |
| Full name | Niemann-Pick disease, type C2 |
| Aliases | ,EDDM1,HE1,MGC1333, |
| Gene summary | 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] |
| Location | Chromosome: 14 Locus: |
| Gene position | 74960084 - 74946643 Map Viewer |
| OMIM ID | 601015 |