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General 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
NPC1 (AAH63302, 151 a.a. ~ 250 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK
Physical form
Solution in phosphate buffered saline, pH 7.4
Legal Information
GenBank is a registered trademark of United States Department of Health and Human Services
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
| biological source | mouse |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 4H2, monoclonal |
| form | buffered aqueous solution |
| species reactivity | human |
| technique(s) | indirect ELISA: suitable,western blot: 1-5 μg/mL |
| isotype | IgG2aκ |
| GenBank accession no. | BC063302 |
| UniProt accession no. | O15118 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... NPC1(4864) |
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¥ 1148.92
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¥ 1259.40
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¥ 1563.36
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¥ 4039.86
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¥ 4968.78
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¥ 1653.62
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¥ 2151.46
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¥ 3319.60
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