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NPC1


Official Full Name
NPC intracellular cholesterol transporter 1
Organism
Homo sapiens
Gene ID
4864
Background
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]
Synonyms
NPC; POGZ; SLC65A1

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SHH354096 shRNA set against Mouse NPC1 (NM_008720.2) Inquiry
SHH354092 shRNA set against Human NPC1 (NM_000271.4) Inquiry
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SHR017552 shRNA set against Mouse Npc1(NM_008720.2) Inquiry
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MiUTR1M-07763 NPC1 miRNA 3'UTR clone Inquiry
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CDCB175415 Danio rerio NPC1 ORF Clone (NM_001243875) Inquiry
CDCB180833 Rabbit NPC1 ORF clone (XM_008260969.1) Inquiry
CDCH392130 Human NPC1 ORF clone(NM_000271.4) Inquiry
CDCL139359 Mouse Npc1 ORF clone (NM_008720.2) Inquiry
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CC-959 NPC1 Easy KO Kit Inquiry
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