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EVC elisa kit :: Human Ellis van Creveld syndrome ELISA Kit

Scan QR to view Datasheet Catalog #    MBS9318253 EVC elisa kit
Unit / Price
48-Strip-Wells  /  $470 +1 FREE 8GB USB
96-Strip-Wells  /  $680 +1 FREE 8GB USB
5x96-Strip-Wells  /  $3,100 +3 FREE 8GB USB
10x96-Strip-Wells  /  $6,095 +7 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

Ellis van Creveld syndrome (EVC), ELISA Kit

 Also Known As   

Human Ellis-van Creveld syndrome protein, EVC ELISA Kit

 Product Synonym Names    Human Ellis-van Creveld syndrome protein (EVC) ELISA kit; DWF-1; EVC1; EVCL; MGC105107; Ellis van Creveld syndrome protein; Ellis van Creveld syndrome
 Product Gene Name   

EVC elisa kit

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Request for Current Manual Insert    Request Current Manual
 OMIM    604831
 3D Structure    ModBase 3D Structure for P57679
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 Species Reactivity    Human
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 Preparation and Storage    Store all reagents at 2-8 degree C
 Product Note    Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.
 Other Notes    Small volumes of EVC elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
 Searchable Terms for EVC purchase    MBS9318253 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Ellis van Creveld syndrome (EVC) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing EVC. The ELISA analytical biochemical technique of the MBS9318253 kit is based on EVC antibody-EVC antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect EVC antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, EVC. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).
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NCBI/Uniprot data below describe general gene information for EVC. It may not necessarily be applicable to this product.
 NCBI GI #    24497531
 NCBI GeneID    2121
 NCBI Accession #    NP_714928.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_153717.2 [Other Products]
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 UniProt Primary Accession #    P57679 [Other Products]
 UniProt Related Accession #    P57679 [Other Products]
 Molecular Weight    111,990 Da
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 NCBI Official Full Name    ellis-van Creveld syndrome protein
 NCBI Official Synonym Full Names    Ellis van Creveld syndrome
 NCBI Official Symbol    EVC [Similar Products]
 NCBI Official Synonym Symbols   
EVC1; EVCL; DWF-1
[Similar Products]
 NCBI Protein Information    ellis-van Creveld syndrome protein
 UniProt Protein Name    Ellis-van Creveld syndrome protein
 UniProt Synonym Protein Names   
DWF-1
 Protein Family    Ellis-van Creveld syndrome protein
 UniProt Gene Name    EVC [Similar Products]
 UniProt Entry Name    EVC_HUMAN
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 NCBI Summary for EVC    This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
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 UniProt Comments for EVC    EVC: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development. Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC); also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD); also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p16

Cellular Component: cytoplasm; integral to membrane; cilium

Biological Process: smoothened signaling pathway; muscle development; cartilage development; positive regulation of smoothened signaling pathway; skeletal development

Disease: Weyers Acrofacial Dysostosis; Ellis-van Creveld Syndrome
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 Research Articles on EVC    1. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Diseases associated with EVC elisa kitOrgans/Tissues associated with EVC elisa kit
 Disease Name  Pubmed Publications
 Ellis-Van Creveld Syndrome Antibodies  >68 publications with EVC and Ellis-Van Creveld Syndrome
 Cardiovascular Diseases Antibodies  >23 publications with EVC and Cardiovascular Diseases
 Heart Diseases Antibodies  >21 publications with EVC and Heart Diseases
 Nervous System Diseases Antibodies  >11 publications with EVC and Nervous System Diseases
 Heart Failure Antibodies  >5 publications with EVC and Heart Failure
 Kidney Diseases Antibodies  >4 publications with EVC and Kidney Diseases
 Hypertension Antibodies  >4 publications with EVC and Hypertension
 Myocardial Ischemia Antibodies  >3 publications with EVC and Myocardial Ischemia
 Inflammation Antibodies  >3 publications with EVC and Inflammation
 Neoplasms Antibodies  >3 publications with EVC and Neoplasms
 Organ/Tissue Name  Pubmed Publications
 Heart Antibodies  >34 publications with EVC and Heart
 Eye Antibodies  >12 publications with EVC and Eye
 Mouth Antibodies  >11 publications with EVC and Mouth
 Brain Antibodies  >9 publications with EVC and Brain
 Lung Antibodies  >8 publications with EVC and Lung
 Kidney Antibodies  >5 publications with EVC and Kidney
 Skin Antibodies  >3 publications with EVC and Skin
 Muscle Antibodies  >3 publications with EVC and Muscle
 Placenta Antibodies  >2 publications with EVC and Placenta
 Pancreas Antibodies  >2 publications with EVC and Pancreas
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