NPC1 (Human) Recombinant Protein (Q01)
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Specification
Product Description
Human NPC1 partial ORF ( AAH63302, 151 a.a. - 250 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
36.63
Interspecies Antigen Sequence
Mouse (89); Rat (89)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
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Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
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Gene Info — NPC1
Entrez GeneID
4864GeneBank Accession#
BC063302Protein Accession#
AAH63302Gene Name
NPC1
Gene Alias
NPC
Gene Description
Niemann-Pick disease, type C1
Gene Ontology
HyperlinkGene Summary
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
Other Designations
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Interactome
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Pathway
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Disease
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