Recombinant Human NPC1, GST-tagged
Cat.No. : | NPC1-29133TH |
Product Overview : | Recombinant Human NPC1(151 a.a. - 250 a.a.), fused with GST-tag at N-terminal, was expressed in wheat germ. |
- Specification
- Gene Information
- Related Products
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. |
Source : | Wheat germ |
Species : | Human |
Tag : | GST |
Molecular Mass : | 36.63 kDa |
AA Sequence : | GFANAMYNACRDVEAPSSNDKALGL LCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATK GCDESVDEVTAPCSCQDCSIVCGPK |
Applications : | ELISA; WB-Re; AP; Array |
Storage : | Store at -80°C. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Gene Name : | NPC1 Niemann-Pick disease, type C1 [ Homo sapiens (human) ] |
Official Symbol : | NPC1 |
Synonyms : | NPC1; NPC; Niemann-Pick disease, type C1; Niemann-Pick C1 protein |
Gene ID : | 4864 |
mRNA Refseq : | NM_000271 |
Protein Refseq : | NP_000262 |
MIM : | 607623 |
UniProt ID : | O15118 |
Chromosome Location : | 18q11.2 |
Pathway : | Lysosome |
Function : | cholesterol binding; hedgehog receptor activity; protein binding |
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For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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