NPC2
Niemann-Pick disease, type C2
Synonyms:
EDDM1, HE1
Species:
Human NPC2 (10577), Mouse Npc2 (67963), Rat Npc2 (286898), dog NPC2 (403920), chicken NPC2 (423353), Zebrafish npc2 (282673), domestic guinea pig Npc2 (100733331), Thale Cress NPC2 (817228), naked mole-rat Npc2 (101700822), cow NPC2 (280815)
UniProtKB ID:
Gene ID:
- Human(10577) 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, Jul 2008]
- Mouse(67963) Niemann Pick type C2
- Rat(286898) Niemann-Pick disease, type C2
- dog(403920) Niemann-Pick disease, type C2
- chicken(423353) Niemann-Pick disease, type C2
- Zebrafish(282673) Niemann-Pick disease, type C2
- domestic guinea pig(100733331) Niemann-Pick disease, type C2
- Thale Cress(817228) non-specific phospholipase C2
- naked mole-rat(101700822) Niemann-Pick disease, type C2
- cow(280815) Niemann-Pick disease, type C2
- domestic cat(101094270) Niemann-Pick disease, type C2
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