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

Human Niemann Pick Disease Type C1 (NPC1) ELISA Kit

Cat. Num. AAA2122187

• Gene Names: NPC1; NPC; POGZ; SLC65A1
• Reactivity: Human
• Synonyms: Niemann Pick Disease Type C1 (NPC1); Human Niemann Pick Disease Type C1 (NPC1) ELISA Kit; Niemann Pick Disease Type C1; NPC1 elisa kit

• Reactivity: Human
• Specificity: This assay has high sensitivity and excellent specificity for detection of Niemann Pick Disease Type C1 (NPC1).; No significant cross-reactivity or interference between Niemann Pick Disease Type C1 (NPC1) and analogues was observed.
• Sequence Length: 1278

• Assay Type: Double-antibody Sandwich
• Sample: Tissue Homogenates, Cell Lysates and Other Biological Fluids
• Dectection Range: 0.312-20ng/mL
• Sensitivity: The minimum detectable dose of this kit is typically less than 0.112ng/mL
• Precision: Intra-assay Precision (Precision within an assay): 3 samples with low, middle and high level Niemann Pick Disease Type C1 (NPC1) were tested 20 times on one plate, respectively.; Inter-assay Precision (Precision between assays): 3 samples with low, middle and high level Niemann Pick Disease Type C1 (NPC1) were tested on 3 different plates, 8 replicates in each plate.; CV(%) = SD/meanX100; Intra-Assay: CV<10%; Inter-Assay: CV<12%
• Preparation and Storage: The stability of kit is determined by the loss rate of activity. The loss rate of this kit is less than 5% within the expiration date under appropriate storage condition.; To minimize extra influence on the performance, operation procedures and lab conditions, especially room temperature, air humidity, incubator temperature should be strictly controlled. It is also strongly suggested that the whole assay is performed by the same operator from the beginning to the end.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for NPC1 elisa kit

The test principle applied in this kit is Sandwich enzyme immunoassay. The microtiter plate provided in this kit has been pre-coated with an antibody specific to Niemann Pick Disease Type C1 (NPC1). Standards or samples are then added to the appropriate microtiter plate wells with a biotin-conjugated antibody specific to Niemann Pick Disease Type C1 (NPC1). Next, Avidin conjugated to Horseradish Peroxidase (HRP) is added to each microplate well and incubated. After TMB substrate solution is added, only those wells that contain Niemann Pick Disease Type C1 (NPC1), biotin-conjugated antibody and enzyme-conjugated Avidin will exhibit a change in color. The enzyme-substrate reaction is terminated by the addition of sulphuric acid solution and the color change is measured spectrophotometrically at a wavelength of 450nm +/- 10nm. The concentration of Niemann Pick Disease Type C1 (NPC1) in the samples is then determined by comparing the O.D. of the samples to the standard curve.

Product Categories/Family for NPC1 elisa kit

Neuro Science

NCBI and Uniprot Product Information

• NCBI GI #: 255652944
• NCBI GeneID: 4864
• NCBI GenBank Nucleotide #: NP_000262.2
• UniProt Accession #: O15118
• NCBI Official Full Name: NPC intracellular cholesterol transporter 1
• NCBI Official Synonym Full Names: NPC intracellular cholesterol transporter 1
• NCBI Official Symbol: NPC1
• NCBI Official Synonym Symbols: NPC; POGZ; SLC65A1
• NCBI Protein Information: NPC intracellular cholesterol transporter 1
• 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, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 18q11.2

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