Niemann Pick Disease Type C1 (NPC1)

Niemann Pick Disease Type C1 (NPC1)
NPC1 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.
Organism species: Homo sapiens (Human)
  • Protein RPL138Hu01Recombinant Niemann Pick Disease Type C1 (NPC1)Customize
  • AntibodyPAL138Hu01Polyclonal Antibody to Niemann Pick Disease Type C1 (NPC1)Customize
  • AntibodyMAL138Hu21Monoclonal Antibody to Niemann Pick Disease Type C1 (NPC1)Customize
  • Assay KitSEL138HuELISA Kit for Niemann Pick Disease Type C1 (NPC1)Customize
  • Assay KitSCL138HuCLIA Kit for Niemann Pick Disease Type C1 (NPC1)Customize
Organism species: Mus musculus (Mouse)
  • Protein RPL138Mu01Recombinant Niemann Pick Disease Type C1 (NPC1)Customize
  • AntibodyPAL138Mu01Polyclonal Antibody to Niemann Pick Disease Type C1 (NPC1)Customize
  • AntibodyMAL138Mu21Monoclonal Antibody to Niemann Pick Disease Type C1 (NPC1)Customize
  • Assay KitSEL138MuELISA Kit for Niemann Pick Disease Type C1 (NPC1)Customize
  • Assay KitSCL138MuCLIA Kit for Niemann Pick Disease Type C1 (NPC1)Customize
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