NPC1
Niemann-Pick disease, type C1
Synonyms:
NPC
Species:
Human NPC1 (4864), Mouse Npc1 (18145), Rat Npc1 (266732), Horse NPC1 (100059175), cow NPC1 (286772), domestic guinea pig Npc1 (100718604), chicken NPC1 (421076), Domestic Rabbit NPC1 (100008746), Thale Cress NPC1 (837234), Zebrafish npc1 (553330) ...More
UniProtKB ID:
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
- Horse(100059175) Niemann-Pick disease, type C1
- cow(286772) Niemann-Pick disease, type C1
- domestic guinea pig(100718604) Niemann-Pick disease, type C1
- chicken(421076) Niemann-Pick disease, type C1
- Domestic Rabbit(100008746) Niemann-Pick disease, type C1
- Thale Cress(837234) non-specific phospholipase C1
- Zebrafish(553330) Niemann-Pick disease, type C1
- naked mole-rat(101710344) Niemann-Pick disease, type C1
- domestic cat(493693) Niemann-Pick disease, type C1
- dog(403698) Niemann-Pick disease, type C1
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Antibodies
Product Number
Description
Species Reactivity
Application
Monoclonal Anti-NPC1 antibody produced in mouse, clone 4H2, purified immunoglobulin, buffered aqueous solution,
Species Reactivity
human
Application
ELISA
western blot
western blot
Anti-NPC1 antibody produced in rabbit, affinity isolated antibody, buffered aqueous solution,
Species Reactivity
human, mouse
Application
ELISA
immunofluorescence
immunohistochemistry
western blot
immunofluorescence
immunohistochemistry
western blot
Anti-NPC1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry