Organism: Homo sapiens
Synonymous: HE1|MGC1333|NP-C2
Niemann-Pick disease, type C2
Link to Entrez Gene
Map: 14q24.3
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0015485 cholesterol binding
GO:0015914 phospholipid transport
GO:0019747 regulation of isoprenoid metabolic process
GO:0019899 enzyme binding
GO:0032367 intracellular cholesterol transport
GO:0042632 cholesterol homeostasis
GO:0046836 glycolipid transport
Reference Sequence: NM_006432.3
921bp CDS 108..563