Niemann-Pick disease, type C2
Symbol
NPC2
(may also be known as: None)
Organism
Human
Description
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]
Orthologs
| Symbol | Species | |
|---|---|---|
| Npc2a | Drosophila melanogaster | |
| npc2 | Danio rerio | |
| Npc2 | Mus musculus | |
| Npc2 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0009615 | response to virus | biological_process | |
| GO:0015914 | phospholipid transport | biological_process | |
| GO:0019747 | regulation of isoprenoid metabolic process | biological_process | |
| GO:0030301 | cholesterol transport | biological_process | |
| GO:0032366 | intracellular sterol transport | biological_process | |
| GO:0032367 | intracellular cholesterol transport | biological_process | |
| GO:0033344 | cholesterol efflux | biological_process | |
| GO:0042632 | cholesterol homeostasis | biological_process | |
| GO:0046836 | glycolipid transport | biological_process | |
| GO:0005576 | extracellular region | cellular_component | |
| GO:0005764 | lysosome | cellular_component | |
| GO:0015485 | cholesterol binding | molecular_function | |
| GO:0019899 | enzyme binding | molecular_function | |