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

Not For Human Consumption!

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