NPC1 rabbit pAb

• 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]

• Description :

  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],

• UniProt :

  O15118

• Swiss Prot :

  O15118

• Reactivity :

  Human; Mouse

• Immunogen :

  Synthesized peptide derived from human NPC1 AA range: 1073-1123

• Target :

  NPC1

• Clonality :

  Polyclonal

• Source :

  Rabbit

• Applications :

  WB

• Concentration :

  1 mg/ml

• Dilution :

  WB 1:500-2000

• Buffer :

  -20°C/1 year

• Storage Conditions :

  -20°C/1 year

• Fragment :

  IgG

• Subcellular Location :

  Late endosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein .

• Gene ID (Human) :

  4864