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Merck

NPC1

Niemann-Pick disease, type C1

Synonyms:
NPC
Species:
Human NPC1 (4864), Mouse Npc1 (18145), Rat Npc1 (266732), naked mole-rat Npc1 (101710344), Domestic Rabbit NPC1 (100008746), domestic guinea pig Npc1 (100718604), Thale Cress NPC1 (837234), Zebrafish npc1 (553330), chicken NPC1 (421076), cow NPC1 (286772) ...More
UniProtKB ID:
O15118, Q9P130
Gene ID:
  • Human(4864) Summary: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
  • Mouse(18145) Niemann Pick type C1
  • Rat(266732) Niemann-Pick disease, type C1
  • naked mole-rat(101710344) Niemann-Pick disease, type C1
  • Domestic Rabbit(100008746) Niemann-Pick disease, type C1
  • domestic guinea pig(100718604) Niemann-Pick disease, type C1
  • Thale Cress(837234) non-specific phospholipase C1
  • Zebrafish(553330) Niemann-Pick disease, type C1
  • chicken(421076) Niemann-Pick disease, type C1
  • cow(286772) Niemann-Pick disease, type C1
  • Horse(100059175) Niemann-Pick disease, type C1
  • domestic cat(493693) Niemann-Pick disease, type C1
  • dog(403698) Niemann-Pick disease, type C1

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