| 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: 14q24.3 |
|
| Gene position | | 74960084 - 74946643 Map Viewer |
|
| Gene orientation | | minus |
|
| Gene size | | 13442 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 601015 |
|
|
|
