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Product Details
NPC1-BIOTIN
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human,
Mouse,
Rat
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
Synthetic peptide taken within amino acid region 1228-1278 on human Niemann-Pick C1 protein.
Conjugate
Biotin
Form
Liquid
Concentration
0.5-1.5 mg/mL
Purification
Affinity chromatography
Storage buffer
proprietary buffer, pH 7.4-7.8, with 0.5% BSA, 30% glycerol
Contains
0.02% sodium azide
Storage conditions
-20°C
Shipping conditions
Ambient (domestic); Wet ice (international)
Target Information
Mutations in the Niemann-Pick disease type C1 (NPC1) gene result in a fatal progressive neurodegenerative disorder characterized by an abnormal sequestration of lipids including cholesterol and glycosphingolipids. The NPC1 protein is 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. NPC1 transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolyzed and released as free cholesterol. NPC1, in addition to FTO, MC4R, and PTER has recently been shown to be a new risk loci for early-onset and morbid adult obesity in European populations.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: FLJ98532; Niemann Pick type C1; Niemann-Pick C1 protein; Niemann-Pick disease, type C1; NPC intracellular cholesterol transporter 1; sphingomyelinosis; truncated Niemann-Pick C1
Gene Aliases: A430089E03Rik; C85354; Cdig2; D18Ertd139e; D18Ertd723e; lcsd; nmf164; NPC; NPC1; spm
UniProt ID: (Human) O15118, (Mouse) O35604
Entrez Gene ID: (Human) 4864, (Mouse) 18145, (Rat) 266732
protein glycosylation
lipid metabolic process
endocytosis
autophagy
adult walking behavior
steroid metabolic process
cholesterol metabolic process
negative regulation of macroautophagy
cholesterol transport
membrane raft organization
cholesterol efflux
response to drug
cholesterol homeostasis
response to cadmium ion
viral entry into host cell
negative regulation of cell death
cellular response to steroid hormone stimulus
cellular response to low-density lipoprotein particle stimulus
establishment of protein localization to membrane
positive regulation of cholesterol homeostasis
signal transduction
lysosomal transport
bile acid metabolic process
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