NPC1 Rabbit pAb
Catalog No:AB-A3993
Manufacturer:ABclonal
Synonyms:NPC1;NPC
Applications:WB
Reactivity:Human
Host:Rabbit
Conjugate:No
€65,00 – €325,00
Product Name: | NPC1 Rabbit pAb |
Category: | Polyclonal Antibodies |
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. |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 23-260 of human NPC1 (NP_000262.2). |
Gene ID: | 4864 |
Swiss prot: | O15118 |
Molecular weight: | 107kDa/142kDa |
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