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. |
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Species : | Human |
Source : | Wheat Germ |
Tag : | GST |
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. |
Molecular Mass : | 36.63 kDa |
AA Sequence : | GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATK 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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Not For Human Consumption!
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