Human Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1) ELISA Kit | DYNC2H1 elisa kit
Human Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1) ELISA Kit
Principle of the Assay: DYNC2H1 ELISA kit applies the competitive enzyme immunoassay technique utilizing a polyclonal anti-DYNC2H1 antibody and an DYNC2H1-HRP conjugate. The assay sample and buffer are incubated together with DYNC2H1-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 DYNC2H1 concentration since DYNC2H1 from samples and DYNC2H1-HRP conjugate compete for the anti-DYNC2H1 antibody binding site. Since the number of sites is limited, as more sites are occupied by DYNC2H1 from the sample, fewer sites are left to bind DYNC2H1-HRP conjugate. A standard curve is plotted relating the intensity of the color (O.D.) to the concentration of standards. The DYNC2H1 concentration in each sample is interpolated from this standard curve.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
Uniprot Description
DYNC2H1: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells. Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3). ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency. Defects in DYNC2H1 are the cause of short rib-polydactyly syndrome type 3 (SRPS3); also called Verma-Naumoff syndrome. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Belongs to the dynein heavy chain family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 11q21-q22.1
Cellular Component: Golgi apparatus; dynein complex; microtubule; apical part of cell; plasma membrane; motile primary cilium; axoneme; cytosol
Molecular Function: ATPase activity; motor activity; microtubule motor activity; ATP binding
Biological Process: asymmetric protein localization; dorsal/ventral pattern formation; organelle organization and biogenesis; forebrain development; antigen processing and presentation of exogenous peptide antigen via MHC class II; cilium biogenesis; positive regulation of smoothened signaling pathway; protein processing; spinal cord motor neuron differentiation; determination of left/right symmetry; Golgi organization and biogenesis; embryonic limb morphogenesis
Disease: Short-rib Thoracic Dysplasia 3 With Or Without Polydactyly
Research Articles on DYNC2H1
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Product Notes
The Human DYNC2H1 dync2h1 (Catalog #AAA7251423) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7251423 ELISA Kit recognizes Human DYNC2H1. It is sometimes possible for the material contained within the vial of "Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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