Human Niemann Pick C1 protein (NPC1) ELISA Kit | NPC1 elisa kit

Human Niemann Pick C1 protein (NPC1) ELISA Kit

Cat. Num. AAA7241955

• Gene Names: NPC1; NPC
• Reactivity: Human
• Synonyms: Niemann Pick C1 protein (NPC1); Human Niemann Pick C1 protein (NPC1) ELISA Kit; NPC1 elisa kit

• Reactivity: Human
• Specificity: This assay has high sensitivity and excellent specificity for detection of NPC-1. No significant cross-reactivity or interference between NPC-1 and analogues was observed. NOTE: Limited by current skills and knowledge, it is impossible for us to complete the cross-reactivity detection between NPC-1 and all the analogues, therefore, cross reaction may still exist in some cases.

• Samples: Serum, plasma, cell culture supernatants, body fluid and tissue homogenate
• Assay Type: Quantitative Competitive
• Sensitivity: 0.1 ng/mL
• Preparation and Storage: Store all reagents at 2-8 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for NPC1 elisa kit

Intended Uses: This NPC-1 ELISA kit is a 1.5 hour solid-phase ELISA designed for the quantitative determination of Human NPC-1. This ELISA kit for research use only, not for therapeutic or test applications!

Principle of the Assay: NPC-1 ELISA kit applies the competitive enzyme immunoassay technique utilizing a polyclonal anti-NPC-1 antibody and an NPC-1-HRP conjugate. The assay sample and buffer are incubated together with NPC-1-HRP conjugate in pre-coated plate for one hour. After the incubation period, the wells are decanted and washed five times. The wells are then incubated with a substrate for HRP enzyme. The product of the enzyme-substrate reaction forms a blue colored complex. Finally, a stop solution is added to stop the reaction, which will then turn the solution yellow. The intensity of color is measured spectrophotometrically at 450nm in a microplate reader. The intensity of the color is inversely proportional to the NPC-1 concentration since NPC-1 from samples and NPC-1-HRP conjugate compete for the anti-NPC-1 antibody binding site. Since the number of sites is limited, as more sites are occupied by NPC-1 from the sample, fewer sites are left to bind NPC-1-HRP conjugate. A standard curve is plotted relating the intensity of the color (O.D.) to the concentration of standards. The NPC-1 concentration in each sample is interpolated from this standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 255652944
• NCBI GeneID: 4864
• NCBI Accession #: NP_000262.2
• NCBI GenBank Nucleotide #: NM_000271.4
• Molecular Weight: 142,167 Da
• NCBI Official Full Name: Niemann-Pick C1 protein
• NCBI Official Synonym Full Names: Niemann-Pick disease, type C1
• NCBI Official Symbol: NPC1
• NCBI Official Synonym Symbols: NPC
• NCBI Protein Information: Niemann-Pick C1 protein
• UniProt Protein Name: Niemann-Pick C1 protein
• Protein Family: Niemann-Pick C1 protein
• UniProt Gene Name: NPC1
• UniProt Entry Name: NPC1_HUMAN

NCBI 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.[provided by RefSeq, Aug 2009]

Uniprot Description

NPC1: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals. Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1). A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. Belongs to the patched family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 18q11.2

Cellular Component: Golgi apparatus; membrane; integral to plasma membrane; late endosome membrane; lysosome; lysosomal membrane; endoplasmic reticulum; perinuclear region of cytoplasm; integral to membrane; extracellular region; nuclear envelope; lipid raft

Molecular Function: protein binding; transmembrane receptor activity; sterol transporter activity; hedgehog receptor activity; cholesterol binding; receptor activity

Biological Process: response to drug; cholesterol metabolic process; lysosomal transport; cholesterol transport; bile acid metabolic process; protein amino acid glycosylation; cholesterol efflux; endocytosis; signal transduction; adult walking behavior; negative regulation of macroautophagy; cholesterol homeostasis; response to cadmium ion; autophagy; lipid raft organization and biogenesis

Disease: Niemann-pick Disease, Type C1