NPC1 rabbit pAb

SKU: ES14463

Size: 100μL

Source:Rabbit

Applications:WB

Reactivity:Human; Mouse

Dilution:WB 1：500-2000

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

Storage_stability:-20°C/1 year

Clonality:Polyclonal

Isotype:IgG

Concentration:1 mg/ml

Observed_band(KD):

Human_gene_id:4864

Human_swiss_prot_no:O15118

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

Other_name:

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],